Canonical Allele Identifier: CA2582122580

Gene: MATK

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797230_3797231insGGGGGGGGGGGGG , CM000681.2:g.3797230_3797231insGGGGGGGGGGGGG	GRCh38
NC_000019.9:g.3797228_3797229insGGGGGGGGGGGGG , CM000681.1:g.3797228_3797229insGGGGGGGGGGGGG	GRCh37
NC_000019.8:g.3748228_3748229insGGGGGGGGGGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4301_-58+4302insCCCCCCCCCCCCC	ENSP00000378485.1:n.-58+4301_-58+4302insCCCCCCCCCCCCC
ENST00000590821.1:n.271+4301_271+4302insCCCCCCCCCCCCC
ENST00000590849.1:c.-52+4301_-52+4302insCCCCCCCCCCCCC	ENSP00000467992.1:n.-52+4301_-52+4302insCCCCCCCCCCCCC
ENST00000590980.1:c.-58+4301_-58+4302insCCCCCCCCCCCCC	ENSP00000467472.1:n.-58+4301_-58+4302insCCCCCCCCCCCCC
ENST00000592300.1:n.273-3830_273-3829insCCCCCCCCCCCCC
ENST00000592612.1:n.251-3833_251-3832insCCCCCCCCCCCCC
NM_002378.3:c.-58+4301_-58+4302insCCCCCCCCCCCCC	NP_002369.2:n.-58+4301_-58+4302insCCCCCCCCCCCCC
XM_011528019.1:c.-58+4301_-58+4302insCCCCCCCCCCCCC	XP_011526321.1:n.-58+4301_-58+4302insCCCCCCCCCCCCC
NM_002378.4:c.-58+4301_-58+4302insCCCCCCCCCCCCC	NP_002369.2:n.-58+4301_-58+4302insCCCCCCCCCCCCC