Canonical Allele Identifier: CA2582122579

Gene: MATK

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797230_3797231insGGGGGGGGGGGGGG , CM000681.2:g.3797230_3797231insGGGGGGGGGGGGGG	GRCh38
NC_000019.9:g.3797228_3797229insGGGGGGGGGGGGGG , CM000681.1:g.3797228_3797229insGGGGGGGGGGGGGG	GRCh37
NC_000019.8:g.3748228_3748229insGGGGGGGGGGGGGG	NCBI36

Transcript Alleles

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