Canonical Allele Identifier: CA992788836

Gene: MATK

Linked Data

• gnomAD v3: 19-3797230-T-TCCCCCCC
• gnomAD v4: 19-3797230-T-TCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797231_3797237dup , CM000681.2:g.3797231_3797237dup	GRCh38
NC_000019.9:g.3797229_3797235dup , CM000681.1:g.3797229_3797235dup	GRCh37
NC_000019.8:g.3748229_3748235dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4295_-58+4301dup	ENSP00000378485.1:n.-58+4295_-58+4301dup
ENST00000590821.1:n.271+4295_271+4301dup
ENST00000590849.1:c.-52+4295_-52+4301dup	ENSP00000467992.1:n.-52+4295_-52+4301dup
ENST00000590980.1:c.-58+4295_-58+4301dup	ENSP00000467472.1:n.-58+4295_-58+4301dup
ENST00000592300.1:n.273-3836_273-3830dup
ENST00000592612.1:n.251-3839_251-3833dup
NM_002378.3:c.-58+4295_-58+4301dup	NP_002369.2:n.-58+4295_-58+4301dup
XM_011528019.1:c.-58+4295_-58+4301dup	XP_011526321.1:n.-58+4295_-58+4301dup
NM_002378.4:c.-58+4295_-58+4301dup	NP_002369.2:n.-58+4295_-58+4301dup