Canonical Allele Identifier: CA2319057288

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797186_3797187delinsAG , CM000681.2:g.3797186_3797187delinsAG	GRCh38
NC_000019.9:g.3797184_3797185delinsAG , CM000681.1:g.3797184_3797185delinsAG	GRCh37
NC_000019.8:g.3748184_3748185delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4345_-58+4346delinsCT	ENSP00000378485.1:n.-58+4345_-58+4346delinsCT
ENST00000590821.1:n.271+4345_271+4346delinsCT
ENST00000590849.1:c.-52+4345_-52+4346delinsCT	ENSP00000467992.1:n.-52+4345_-52+4346delinsCT
ENST00000590980.1:c.-58+4345_-58+4346delinsCT	ENSP00000467472.1:n.-58+4345_-58+4346delinsCT
ENST00000592300.1:n.273-3786_273-3785delinsCT
ENST00000592612.1:n.251-3789_251-3788delinsCT
NM_002378.3:c.-58+4345_-58+4346delinsCT	NP_002369.2:n.-58+4345_-58+4346delinsCT
XM_011528019.1:c.-58+4345_-58+4346delinsCT	XP_011526321.1:n.-58+4345_-58+4346delinsCT
NM_002378.4:c.-58+4345_-58+4346delinsCT	NP_002369.2:n.-58+4345_-58+4346delinsCT