Canonical Allele Identifier: CA2319057323

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797243_3797246delinsCCCA , CM000681.2:g.3797243_3797246delinsCCCA	GRCh38
NC_000019.9:g.3797241_3797244delinsCCCA , CM000681.1:g.3797241_3797244delinsCCCA	GRCh37
NC_000019.8:g.3748241_3748244delinsCCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4286_-58+4289delinsTGGG	ENSP00000378485.1:n.-58+4286_-58+4289delinsTGGG
ENST00000590821.1:n.271+4286_271+4289delinsTGGG
ENST00000590849.1:c.-52+4286_-52+4289delinsTGGG	ENSP00000467992.1:n.-52+4286_-52+4289delinsTGGG
ENST00000590980.1:c.-58+4286_-58+4289delinsTGGG	ENSP00000467472.1:n.-58+4286_-58+4289delinsTGGG
ENST00000592300.1:n.273-3845_273-3842delinsTGGG
ENST00000592612.1:n.251-3848_251-3845delinsTGGG
NM_002378.3:c.-58+4286_-58+4289delinsTGGG	NP_002369.2:n.-58+4286_-58+4289delinsTGGG
XM_011528019.1:c.-58+4286_-58+4289delinsTGGG	XP_011526321.1:n.-58+4286_-58+4289delinsTGGG
NM_002378.4:c.-58+4286_-58+4289delinsTGGG	NP_002369.2:n.-58+4286_-58+4289delinsTGGG