Canonical Allele Identifier: CA2319057193

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3796962_3796966delinsGTCTC , CM000681.2:g.3796962_3796966delinsGTCTC	GRCh38
NC_000019.9:g.3796960_3796964delinsGTCTC , CM000681.1:g.3796960_3796964delinsGTCTC	GRCh37
NC_000019.8:g.3747960_3747964delinsGTCTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4566_-58+4570delinsGAGAC	ENSP00000378485.1:n.-58+4566_-58+4570delinsGAGAC
ENST00000590821.1:n.271+4566_271+4570delinsGAGAC
ENST00000590849.1:c.-52+4566_-52+4570delinsGAGAC	ENSP00000467992.1:n.-52+4566_-52+4570delinsGAGAC
ENST00000590980.1:c.-58+4566_-58+4570delinsGAGAC	ENSP00000467472.1:n.-58+4566_-58+4570delinsGAGAC
ENST00000592300.1:n.273-3565_273-3561delinsGAGAC
ENST00000592612.1:n.251-3568_251-3564delinsGAGAC
NM_002378.3:c.-58+4566_-58+4570delinsGAGAC	NP_002369.2:n.-58+4566_-58+4570delinsGAGAC
XM_011528019.1:c.-58+4566_-58+4570delinsGAGAC	XP_011526321.1:n.-58+4566_-58+4570delinsGAGAC
NM_002378.4:c.-58+4566_-58+4570delinsGAGAC	NP_002369.2:n.-58+4566_-58+4570delinsGAGAC