Canonical Allele Identifier: CA881962615

Gene: MATK

Linked Data

• dbSNP Id: rs1176572501
• gnomAD v3: 19-3797243-CCCA-C
• gnomAD v4: 19-3797243-CCCA-C
• MyVariant Identifiers: chr19:g.3797242_3797244del (hg19) ; chr19:g.3797244_3797246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797245_3797247del , CM000681.2:g.3797245_3797247del	GRCh38
NC_000019.9:g.3797243_3797245del , CM000681.1:g.3797243_3797245del	GRCh37
NC_000019.8:g.3748243_3748245del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4286_-58+4288del	ENSP00000378485.1:n.-58+4286_-58+4288del
ENST00000590821.1:n.271+4286_271+4288del
ENST00000590849.1:c.-52+4286_-52+4288del	ENSP00000467992.1:n.-52+4286_-52+4288del
ENST00000590980.1:c.-58+4286_-58+4288del	ENSP00000467472.1:n.-58+4286_-58+4288del
ENST00000592300.1:n.273-3845_273-3843del
ENST00000592612.1:n.251-3848_251-3846del
NM_002378.3:c.-58+4286_-58+4288del	NP_002369.2:n.-58+4286_-58+4288del
XM_011528019.1:c.-58+4286_-58+4288del	XP_011526321.1:n.-58+4286_-58+4288del
NM_002378.4:c.-58+4286_-58+4288del	NP_002369.2:n.-58+4286_-58+4288del