Canonical Allele Identifier: CA2319057280

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797149_3797150delinsGT , CM000681.2:g.3797149_3797150delinsGT	GRCh38
NC_000019.9:g.3797147_3797148delinsGT , CM000681.1:g.3797147_3797148delinsGT	GRCh37
NC_000019.8:g.3748147_3748148delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4382_-58+4383delinsAC	ENSP00000378485.1:n.-58+4382_-58+4383delinsAC
ENST00000590821.1:n.271+4382_271+4383delinsAC
ENST00000590849.1:c.-52+4382_-52+4383delinsAC	ENSP00000467992.1:n.-52+4382_-52+4383delinsAC
ENST00000590980.1:c.-58+4382_-58+4383delinsAC	ENSP00000467472.1:n.-58+4382_-58+4383delinsAC
ENST00000592300.1:n.273-3749_273-3748delinsAC
ENST00000592612.1:n.251-3752_251-3751delinsAC
NM_002378.3:c.-58+4382_-58+4383delinsAC	NP_002369.2:n.-58+4382_-58+4383delinsAC
XM_011528019.1:c.-58+4382_-58+4383delinsAC	XP_011526321.1:n.-58+4382_-58+4383delinsAC
NM_002378.4:c.-58+4382_-58+4383delinsAC	NP_002369.2:n.-58+4382_-58+4383delinsAC