Canonical Allele Identifier: CA1398510013
Gene: MYLK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123689608_123689612delinsGCTCA , CM000665.2:g.123689608_123689612delinsGCTCA GRCh38
NC_000003.11:g.123408455_123408459delinsGCTCA , CM000665.1:g.123408455_123408459delinsGCTCA GRCh37
NC_000003.10:g.124891145_124891149delinsGCTCA NCBI36
NG_029111.1:g.199691_199695delinsTGAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000346322.10:c.3358+3123_3358+3127delinsTGAGC ENSP00000320622.6:n.3358+3123_3358+3127de...
ENST00000504946.6:c.1175+3123_1175+3127delinsTGAGC
ENST00000508240.2:c.-36+2671_-36+2675delinsTGAGC ENSP00000422984.2:n.-36+2671_-36+2675deli...
ENST00000684879.1:n.1197+3123_1197+3127delinsTGAGC
ENST00000685021.1:c.799+3123_799+3127delinsTGAGC ENSP00000508447.1:n.799+3123_799+3127deli...
ENST00000685259.1:c.1103+3123_1103+3127delinsTGAGC
ENST00000685907.1:n.1346+3123_1346+3127delinsTGAGC
ENST00000685953.1:c.-36+2671_-36+2675delinsTGAGC ENSP00000510593.1:n.-36+2671_-36+2675deli...
ENST00000686039.1:c.1103+3123_1103+3127delinsTGAGC
ENST00000686245.1:c.683-7302_683-7298delinsTGAGC ENSP00000509313.1:n.683-7302_683-7298deli...
ENST00000686406.1:c.3565+3123_3565+3127delinsTGAGC ENSP00000509044.1:n.3565+3123_3565+3127de...
ENST00000686761.1:c.3565+3123_3565+3127delinsTGAGC ENSP00000508758.1:n.3565+3123_3565+3127de...
ENST00000686822.1:n.3459+3123_3459+3127delinsTGAGC
ENST00000687434.1:c.-36+2671_-36+2675delinsTGAGC ENSP00000509751.1:n.-36+2671_-36+2675deli...
ENST00000687709.1:n.830+3123_830+3127delinsTGAGC
ENST00000687848.1:c.3595+3123_3595+3127delinsTGAGC ENSP00000508761.1:n.3595+3123_3595+3127de...
ENST00000688024.1:c.799+3123_799+3127delinsTGAGC ENSP00000509803.1:n.799+3123_799+3127deli...
ENST00000688223.1:c.799+3123_799+3127delinsTGAGC ENSP00000508935.1:n.799+3123_799+3127deli...
ENST00000689227.1:c.1238+3123_1238+3127delinsTGAGC
ENST00000689868.1:n.1293+3123_1293+3127delinsTGAGC
ENST00000690167.1:n.1236+3123_1236+3127delinsTGAGC
ENST00000690457.1:c.2803+3123_2803+3127delinsTGAGC ENSP00000508777.1:n.2803+3123_2803+3127de...
ENST00000691933.1:c.1103+3123_1103+3127delinsTGAGC
ENST00000692352.1:c.1103+3123_1103+3127delinsTGAGC
ENST00000693689.1:c.3358+3123_3358+3127delinsTGAGC ENSP00000510503.1:n.3358+3123_3358+3127de...
ENST00000360304.8:c.3565+3123_3565+3127delinsTGAGC MANE Select ENSP00000353452.3:n.3565+3123_3565+3127de...
ENST00000346322.9:c.3358+3123_3358+3127delinsTGAGC ENSP00000320622.5:n.3358+3123_3358+3127de...
ENST00000354792.9:c.3358+3123_3358+3127delinsTGAGC ENSP00000346846.6:n.3358+3123_3358+3127de...
ENST00000359169.5:c.3565+3123_3565+3127delinsTGAGC ENSP00000352088.1:n.3565+3123_3565+3127de...
ENST00000360304.7:c.3565+3123_3565+3127delinsTGAGC ENSP00000353452.3:n.3565+3123_3565+3127de...
ENST00000360772.7:c.3565+3123_3565+3127delinsTGAGC ENSP00000354004.3:n.3565+3123_3565+3127de...
ENST00000464489.5:c.*3144+3123_*3144+3127delinsTGAGC ENSP00000417798.1:n.*3144+3123_*3144+3127...
ENST00000475616.5:c.3565+3123_3565+3127delinsTGAGC ENSP00000418335.1:n.3565+3123_3565+3127de...
ENST00000504946.5:n.1123+3123_1123+3127delinsTGAGC
ENST00000508240.1:c.-36+2671_-36+2675delinsTGAGC ENSP00000422984.1:n.-36+2671_-36+2675deli...
ENST00000510775.5:n.283+3123_283+3127delinsTGAGC
NM_053025.3:c.3565+3123_3565+3127delinsTGAGC NP_444253.3:n.3565+3123_3565+3127delinsTG...
NM_053026.3:c.3358+3123_3358+3127delinsTGAGC NP_444254.3:n.3358+3123_3358+3127delinsTG...
NM_053027.3:c.3565+3123_3565+3127delinsTGAGC NP_444255.3:n.3565+3123_3565+3127delinsTG...
NM_053028.3:c.3358+3123_3358+3127delinsTGAGC NP_444256.3:n.3358+3123_3358+3127delinsTG...
XM_011512860.1:c.3565+3123_3565+3127delinsTGAGC XP_011511162.1:n.3565+3123_3565+3127delin...
XM_011512861.1:c.3565+3123_3565+3127delinsTGAGC XP_011511163.1:n.3565+3123_3565+3127delin...
XM_011512862.1:c.3037+3123_3037+3127delinsTGAGC XP_011511164.1:n.3037+3123_3037+3127delin...
NM_001321309.1:c.3037+3123_3037+3127delinsTGAGC NP_001308238.1:n.3037+3123_3037+3127delin...
XM_011512860.3:c.3595+3123_3595+3127delinsTGAGC XP_011511162.2:n.3595+3123_3595+3127delin...
XM_011512861.3:c.3595+3123_3595+3127delinsTGAGC XP_011511163.2:n.3595+3123_3595+3127delin...
XM_017006469.2:c.799+3123_799+3127delinsTGAGC XP_016861958.1:n.799+3123_799+3127delinsT...
XM_017006470.2:c.-36+2671_-36+2675delinsTGAGC XP_016861959.1:n.-36+2671_-36+2675delinsT...
XM_017006471.2:c.-36+2671_-36+2675delinsTGAGC XP_016861960.1:n.-36+2671_-36+2675delinsT...
XM_024453532.1:c.3595+3123_3595+3127delinsTGAGC XP_024309300.1:n.3595+3123_3595+3127delin...
XM_024453533.1:c.3565+3123_3565+3127delinsTGAGC XP_024309301.1:n.3565+3123_3565+3127delin...
XM_024453534.1:c.3388+3123_3388+3127delinsTGAGC XP_024309302.1:n.3388+3123_3388+3127delin...
XM_024453535.1:c.3358+3123_3358+3127delinsTGAGC XP_024309303.1:n.3358+3123_3358+3127delin...
XM_024453536.1:c.3565+3123_3565+3127delinsTGAGC XP_024309304.1:n.3565+3123_3565+3127delin...
XM_024453537.1:c.3565+3123_3565+3127delinsTGAGC XP_024309305.1:n.3565+3123_3565+3127delin...
NM_001321309.2:c.3037+3123_3037+3127delinsTGAGC NP_001308238.1:n.3037+3123_3037+3127delin...
NM_053025.4:c.3565+3123_3565+3127delinsTGAGC MANE Select NP_444253.3:n.3565+3123_3565+3127delinsTG...
NM_053026.4:c.3358+3123_3358+3127delinsTGAGC NP_444254.3:n.3358+3123_3358+3127delinsTG...
NM_053027.4:c.3565+3123_3565+3127delinsTGAGC NP_444255.3:n.3565+3123_3565+3127delinsTG...
NM_053028.4:c.3358+3123_3358+3127delinsTGAGC NP_444256.3:n.3358+3123_3358+3127delinsTG...