Canonical Allele Identifier: CA2319057375

Gene: MATK

Linked Data

• dbSNP Id: rs2037605177

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797335_3797346dup , CM000681.2:g.3797335_3797346dup	GRCh38
NC_000019.9:g.3797333_3797344dup , CM000681.1:g.3797333_3797344dup	GRCh37
NC_000019.8:g.3748333_3748344dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4186_-58+4197dup	ENSP00000378485.1:n.-58+4186_-58+4197dup
ENST00000590821.1:n.271+4186_271+4197dup
ENST00000590849.1:c.-52+4186_-52+4197dup	ENSP00000467992.1:n.-52+4186_-52+4197dup
ENST00000590980.1:c.-58+4186_-58+4197dup	ENSP00000467472.1:n.-58+4186_-58+4197dup
ENST00000592300.1:n.273-3945_273-3934dup
ENST00000592612.1:n.251-3948_251-3937dup
NM_002378.3:c.-58+4186_-58+4197dup	NP_002369.2:n.-58+4186_-58+4197dup
XM_011528019.1:c.-58+4186_-58+4197dup	XP_011526321.1:n.-58+4186_-58+4197dup
NM_002378.4:c.-58+4186_-58+4197dup	NP_002369.2:n.-58+4186_-58+4197dup