Canonical Allele Identifier: CA10614628
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123612849_123612852del , CM000665.2:g.123612849_123612852del GRCh38
NC_000003.11:g.123331696_123331699del , CM000665.1:g.123331696_123331699del GRCh37
NC_000003.10:g.124814386_124814389del NCBI36
NG_029111.1:g.276460_276463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000685021.1:c.*1262_*1265del (MYLK) ENSP00000508447.1:n.*1262_*1265del
ENST00000685744.1:c.*1262_*1265del (MYLK) ENSP00000510047.1:n.*1262_*1265del
ENST00000685953.1:c.*1262_*1265del (MYLK) ENSP00000510593.1:n.*1262_*1265del
ENST00000686039.1:c.4391_4394del (MYLK)
ENST00000687434.1:c.*3223_*3226del (MYLK) ENSP00000509751.1:n.*3223_*3226del
ENST00000688024.1:c.*1262_*1265del (MYLK) ENSP00000509803.1:n.*1262_*1265del
ENST00000688223.1:c.*1262_*1265del (MYLK) ENSP00000508935.1:n.*1262_*1265del
ENST00000689868.1:n.7267_7270del (MYLK)
ENST00000691933.1:c.4631_4634del (MYLK)
ENST00000692507.1:n.2811_2814del (MYLK)
ENST00000693689.1:c.*1262_*1265del (MYLK) ENSP00000510503.1:n.*1262_*1265del
ENST00000360304.8:c.*1262_*1265del (MYLK) MANE Select ENSP00000353452.3:n.*1262_*1265del
ENST00000354792.9:c.*1262_*1265del (MYLK) ENSP00000346846.6:n.*1262_*1265del
ENST00000359169.5:c.*1262_*1265del (MYLK) ENSP00000352088.1:n.*1262_*1265del
ENST00000360304.7:c.*1262_*1265del (MYLK) ENSP00000353452.3:n.*1262_*1265del
ENST00000360772.7:c.*1262_*1265del (MYLK) ENSP00000354004.3:n.*1262_*1265del
ENST00000418370.6:c.*1262_*1265del (MYLK) ENSP00000428967.1:n.*1262_*1265del
NM_053025.3:c.*1262_*1265del (MYLK) NP_444253.3:n.*1262_*1265del
NM_053026.3:c.*1262_*1265del (MYLK) NP_444254.3:n.*1262_*1265del
NM_053027.3:c.*1262_*1265del (MYLK) NP_444255.3:n.*1262_*1265del
NM_053028.3:c.*1262_*1265del (MYLK) NP_444256.3:n.*1262_*1265del
NM_053031.2:c.*1262_*1265del (MYLK) NP_444259.1:n.*1262_*1265del
NM_053032.2:c.*1262_*1265del (MYLK) NP_444260.1:n.*1262_*1265del
NR_038266.2:n.290-16645_290-16642del (MYLK-AS1)
NR_121654.1:n.197-16645_197-16642del (MYLK-AS1)
NM_001321309.1:c.*1262_*1265del (MYLK) NP_001308238.1:n.*1262_*1265del
NM_053031.3:c.*1262_*1265del (MYLK) NP_444259.1:n.*1262_*1265del
NM_053032.3:c.*1262_*1265del (MYLK) NP_444260.1:n.*1262_*1265del
XM_017006469.2:c.*1262_*1265del (MYLK) XP_016861958.1:n.*1262_*1265del
XM_017006470.2:c.*1262_*1265del (MYLK) XP_016861959.1:n.*1262_*1265del
XM_017006471.2:c.*1262_*1265del (MYLK) XP_016861960.1:n.*1262_*1265del
XM_017006472.2:c.*1262_*1265del (MYLK) XP_016861961.1:n.*1262_*1265del
XM_017006473.1:c.*1262_*1265del (MYLK) XP_016861962.1:n.*1262_*1265del
NM_001321309.2:c.*1262_*1265del (MYLK) NP_001308238.1:n.*1262_*1265del
NM_053025.4:c.*1262_*1265del (MYLK) MANE Select NP_444253.3:n.*1262_*1265del
NM_053026.4:c.*1262_*1265del (MYLK) NP_444254.3:n.*1262_*1265del
NM_053027.4:c.*1262_*1265del (MYLK) NP_444255.3:n.*1262_*1265del
NM_053028.4:c.*1262_*1265del (MYLK) NP_444256.3:n.*1262_*1265del
NM_053031.4:c.*1262_*1265del (MYLK) NP_444259.1:n.*1262_*1265del
NM_053032.4:c.*1262_*1265del (MYLK) NP_444260.1:n.*1262_*1265del