Canonical Allele Identifier: CA992788647

Gene: MATK

Linked Data

• dbSNP Id: rs2037603106
• gnomAD v3: 19-3797186-AG-A
• gnomAD v4: 19-3797186-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797189del , CM000681.2:g.3797189del	GRCh38
NC_000019.9:g.3797187del , CM000681.1:g.3797187del	GRCh37
NC_000019.8:g.3748187del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000395045.6:c.-58+4345del	ENSP00000378485.1:n.-58+4345del
ENST00000590821.1:n.271+4345del
ENST00000590849.1:c.-52+4345del	ENSP00000467992.1:n.-52+4345del
ENST00000590980.1:c.-58+4345del	ENSP00000467472.1:n.-58+4345del
ENST00000592300.1:n.273-3786del
ENST00000592612.1:n.251-3789del
NM_002378.3:c.-58+4345del	NP_002369.2:n.-58+4345del
XM_011528019.1:c.-58+4345del	XP_011526321.1:n.-58+4345del
NM_002378.4:c.-58+4345del	NP_002369.2:n.-58+4345del