Canonical Allele Identifier: CA2319057318

Gene: MATK

Linked Data

• dbSNP Id: rs146631970

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797243_3797245del , CM000681.2:g.3797243_3797245del	GRCh38
NC_000019.9:g.3797241_3797243del , CM000681.1:g.3797241_3797243del	GRCh37
NC_000019.8:g.3748241_3748243del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4291_-58+4293del	ENSP00000378485.1:n.-58+4291_-58+4293del
ENST00000590821.1:n.271+4291_271+4293del
ENST00000590849.1:c.-52+4291_-52+4293del	ENSP00000467992.1:n.-52+4291_-52+4293del
ENST00000590980.1:c.-58+4291_-58+4293del	ENSP00000467472.1:n.-58+4291_-58+4293del
ENST00000592300.1:n.273-3840_273-3838del
ENST00000592612.1:n.251-3843_251-3841del
NM_002378.3:c.-58+4291_-58+4293del	NP_002369.2:n.-58+4291_-58+4293del
XM_011528019.1:c.-58+4291_-58+4293del	XP_011526321.1:n.-58+4291_-58+4293del
NM_002378.4:c.-58+4291_-58+4293del	NP_002369.2:n.-58+4291_-58+4293del