Canonical Allele Identifier: CA2319057358

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797299_3797302delinsATTT , CM000681.2:g.3797299_3797302delinsATTT	GRCh38
NC_000019.9:g.3797297_3797300delinsATTT , CM000681.1:g.3797297_3797300delinsATTT	GRCh37
NC_000019.8:g.3748297_3748300delinsATTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4230_-58+4233delinsAAAT	ENSP00000378485.1:n.-58+4230_-58+4233delinsAAAT
ENST00000590821.1:n.271+4230_271+4233delinsAAAT
ENST00000590849.1:c.-52+4230_-52+4233delinsAAAT	ENSP00000467992.1:n.-52+4230_-52+4233delinsAAAT
ENST00000590980.1:c.-58+4230_-58+4233delinsAAAT	ENSP00000467472.1:n.-58+4230_-58+4233delinsAAAT
ENST00000592300.1:n.273-3901_273-3898delinsAAAT
ENST00000592612.1:n.251-3904_251-3901delinsAAAT
NM_002378.3:c.-58+4230_-58+4233delinsAAAT	NP_002369.2:n.-58+4230_-58+4233delinsAAAT
XM_011528019.1:c.-58+4230_-58+4233delinsAAAT	XP_011526321.1:n.-58+4230_-58+4233delinsAAAT
NM_002378.4:c.-58+4230_-58+4233delinsAAAT	NP_002369.2:n.-58+4230_-58+4233delinsAAAT