Canonical Allele Identifier: CA2319057262

Gene: MATK

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797109_3797110delinsAC , CM000681.2:g.3797109_3797110delinsAC	GRCh38
NC_000019.9:g.3797107_3797108delinsAC , CM000681.1:g.3797107_3797108delinsAC	GRCh37
NC_000019.8:g.3748107_3748108delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4422_-58+4423delinsGT	ENSP00000378485.1:n.-58+4422_-58+4423delinsGT
ENST00000590821.1:n.271+4422_271+4423delinsGT
ENST00000590849.1:c.-52+4422_-52+4423delinsGT	ENSP00000467992.1:n.-52+4422_-52+4423delinsGT
ENST00000590980.1:c.-58+4422_-58+4423delinsGT	ENSP00000467472.1:n.-58+4422_-58+4423delinsGT
ENST00000592300.1:n.273-3709_273-3708delinsGT
ENST00000592612.1:n.251-3712_251-3711delinsGT
NM_002378.3:c.-58+4422_-58+4423delinsGT	NP_002369.2:n.-58+4422_-58+4423delinsGT
XM_011528019.1:c.-58+4422_-58+4423delinsGT	XP_011526321.1:n.-58+4422_-58+4423delinsGT
NM_002378.4:c.-58+4422_-58+4423delinsGT	NP_002369.2:n.-58+4422_-58+4423delinsGT