Canonical Allele Identifier: CA1053030838
Gene: MYLK HGNC NCBI

Linked Data

gnomAD v3: 3-123692742-G-GTGACTTGGCAGGAGCACTCCGCCAAGTCACTGTGGATGGTAGGTCGTGCCCACCCATCGCCGCCACA
gnomAD v4: 3-123692742-G-GTGACTTGGCAGGAGCACTCCGCCAAGTCACTGTGGATGGTAGGTCGTGCCCACCCATCGCCGCCACA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123692742_123692743insTGACTTGGCAGGAGCACTCCGCCAAGTCACTGTGGATGGTAGGTCGTGCCCACCCATCGCCGCCACA , CM000665.2:g.123692742_123692743insTGACTTGGCAGGAGCACTCCGCCAAGTCACTGTGGATGGTAGGTCGTGCCCACCCATCGCCGCCACA GRCh38
NC_000003.11:g.123411589_123411590insTGACTTGGCAGGAGCACTCCGCCAAGTCACTGTGGATGGTAGGTCGTGCCCACCCATCGCCGCCACA , CM000665.1:g.123411589_123411590insTGACTTGGCAGGAGCACTCCGCCAAGTCACTGTGGATGGTAGGTCGTGCCCACCCATCGCCGCCACA GRCh37
NC_000003.10:g.124894279_124894280insTGACTTGGCAGGAGCACTCCGCCAAGTCACTGTGGATGGTAGGTCGTGCCCACCCATCGCCGCCACA NCBI36
NG_029111.1:g.196560_196561insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000346322.10:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000320622.6:p.Asp1119AlafsTer24
ENST00000504946.6:c.1167_1168insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000684879.1:n.1189_1190insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000685021.1:c.791_792insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000508447.1:p.Asp266AlafsTer24
ENST00000685259.1:c.1095_1096insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000685907.1:n.1338_1339insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000686039.1:c.1095_1096insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000686245.1:c.682+7277_682+7278insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000509313.1:n.682+7277_682+7278insTGTGGCGGCGATGGGTGGGCA...
ENST00000686406.1:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000509044.1:p.Asp1188AlafsTer24
ENST00000686761.1:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000508758.1:p.Asp1188AlafsTer24
ENST00000686822.1:n.3451_3452insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000687709.1:n.822_823insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000687848.1:c.3587_3588insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000508761.1:p.Asp1198AlafsTer24
ENST00000688024.1:c.791_792insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000509803.1:p.Asp266AlafsTer24
ENST00000688223.1:c.791_792insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000508935.1:p.Asp266AlafsTer24
ENST00000689227.1:c.1230_1231insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000689868.1:n.1285_1286insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000690167.1:n.1228_1229insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000690457.1:c.2795_2796insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000508777.1:p.Asp934AlafsTer24
ENST00000691933.1:c.1095_1096insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000692352.1:c.1095_1096insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000693689.1:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000510503.1:p.Asp1119AlafsTer24
ENST00000360304.8:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA MANE Select ENSP00000353452.3:p.Asp1188AlafsTer24
ENST00000346322.9:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000320622.5:p.Asp1119AlafsTer24
ENST00000354792.9:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000346846.6:p.Asp1119AlafsTer24
ENST00000359169.5:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000352088.1:p.Asp1188AlafsTer24
ENST00000360304.7:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000353452.3:p.Asp1188AlafsTer24
ENST00000360772.7:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000354004.3:p.Asp1188AlafsTer24
ENST00000464489.5:c.*3136_*3137insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000417798.1:n.*3136_*3137insTGTGGCGGCGATGGGTGGGCACGACCT...
ENST00000475616.5:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA ENSP00000418335.1:p.Asp1188AlafsTer24
ENST00000503644.1:n.226_227insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000504946.5:n.1115_1116insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
ENST00000510775.5:n.275_276insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA
NM_053025.3:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_444253.3:p.Asp1188AlafsTer24
NM_053026.3:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_444254.3:p.Asp1119AlafsTer24
NM_053027.3:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_444255.3:p.Asp1188AlafsTer24
NM_053028.3:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_444256.3:p.Asp1119AlafsTer24
XM_011512860.1:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_011511162.1:p.Asp1188AlafsTer24
XM_011512861.1:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_011511163.1:p.Asp1188AlafsTer24
XM_011512862.1:c.3029_3030insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_011511164.1:p.Asp1012AlafsTer24
NM_001321309.1:c.3029_3030insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_001308238.1:p.Asp1012AlafsTer24
XM_011512860.3:c.3587_3588insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_011511162.2:p.Asp1198AlafsTer24
XM_011512861.3:c.3587_3588insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_011511163.2:p.Asp1198AlafsTer24
XM_017006469.2:c.791_792insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_016861958.1:p.Asp266AlafsTer24
XM_024453532.1:c.3587_3588insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_024309300.1:p.Asp1198AlafsTer24
XM_024453533.1:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_024309301.1:p.Asp1188AlafsTer24
XM_024453534.1:c.3380_3381insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_024309302.1:p.Asp1129AlafsTer24
XM_024453535.1:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_024309303.1:p.Asp1119AlafsTer24
XM_024453536.1:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_024309304.1:p.Asp1188AlafsTer24
XM_024453537.1:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA XP_024309305.1:p.Asp1188AlafsTer24
NM_001321309.2:c.3029_3030insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_001308238.1:p.Asp1012AlafsTer24
NM_053025.4:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA MANE Select NP_444253.3:p.Asp1188AlafsTer24
NM_053026.4:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_444254.3:p.Asp1119AlafsTer24
NM_053027.4:c.3557_3558insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_444255.3:p.Asp1188AlafsTer24
NM_053028.4:c.3350_3351insTGTGGCGGCGATGGGTGGGCACGACCTACCATCCACAGTGACTTGGCGGAGTGCTCCTGCCAAGTCA NP_444256.3:p.Asp1119AlafsTer24
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