Canonical Allele Identifier: CA992788909

Gene: MATK

Linked Data

• gnomAD v3: 19-3797232-C-CT
• gnomAD v4: 19-3797232-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797232_3797233insT , CM000681.2:g.3797232_3797233insT	GRCh38
NC_000019.9:g.3797230_3797231insT , CM000681.1:g.3797230_3797231insT	GRCh37
NC_000019.8:g.3748230_3748231insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4299_-58+4300insA	ENSP00000378485.1:n.-58+4299_-58+4300insA
ENST00000590821.1:n.271+4299_271+4300insA
ENST00000590849.1:c.-52+4299_-52+4300insA	ENSP00000467992.1:n.-52+4299_-52+4300insA
ENST00000590980.1:c.-58+4299_-58+4300insA	ENSP00000467472.1:n.-58+4299_-58+4300insA
ENST00000592300.1:n.273-3832_273-3831insA
ENST00000592612.1:n.251-3835_251-3834insA
NM_002378.3:c.-58+4299_-58+4300insA	NP_002369.2:n.-58+4299_-58+4300insA
XM_011528019.1:c.-58+4299_-58+4300insA	XP_011526321.1:n.-58+4299_-58+4300insA
NM_002378.4:c.-58+4299_-58+4300insA	NP_002369.2:n.-58+4299_-58+4300insA