Canonical Allele Identifier: CA2319057308

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797237_3797238delinsCA , CM000681.2:g.3797237_3797238delinsCA	GRCh38
NC_000019.9:g.3797235_3797236delinsCA , CM000681.1:g.3797235_3797236delinsCA	GRCh37
NC_000019.8:g.3748235_3748236delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4294_-58+4295delinsTG	ENSP00000378485.1:n.-58+4294_-58+4295delinsTG
ENST00000590821.1:n.271+4294_271+4295delinsTG
ENST00000590849.1:c.-52+4294_-52+4295delinsTG	ENSP00000467992.1:n.-52+4294_-52+4295delinsTG
ENST00000590980.1:c.-58+4294_-58+4295delinsTG	ENSP00000467472.1:n.-58+4294_-58+4295delinsTG
ENST00000592300.1:n.273-3837_273-3836delinsTG
ENST00000592612.1:n.251-3840_251-3839delinsTG
NM_002378.3:c.-58+4294_-58+4295delinsTG	NP_002369.2:n.-58+4294_-58+4295delinsTG
XM_011528019.1:c.-58+4294_-58+4295delinsTG	XP_011526321.1:n.-58+4294_-58+4295delinsTG
NM_002378.4:c.-58+4294_-58+4295delinsTG	NP_002369.2:n.-58+4294_-58+4295delinsTG