Canonical Allele Identifier: CA631516672

Gene: MATK

Linked Data

• dbSNP Id: rs146631970
• gnomAD v2: 19-3797236-A-ACC
• gnomAD v3: 19-3797238-A-ACC
• gnomAD v4: 19-3797238-A-ACC
• MyVariant Identifiers: chr19:g.3797236_3797237insCC (hg19) ; chr19:g.3797238_3797239insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3797244_3797245dup , CM000681.2:g.3797244_3797245dup	GRCh38
NC_000019.9:g.3797242_3797243dup , CM000681.1:g.3797242_3797243dup	GRCh37
NC_000019.8:g.3748242_3748243dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395045.6:c.-58+4292_-58+4293dup	ENSP00000378485.1:n.-58+4292_-58+4293dup
ENST00000590821.1:n.271+4292_271+4293dup
ENST00000590849.1:c.-52+4292_-52+4293dup	ENSP00000467992.1:n.-52+4292_-52+4293dup
ENST00000590980.1:c.-58+4292_-58+4293dup	ENSP00000467472.1:n.-58+4292_-58+4293dup
ENST00000592300.1:n.273-3839_273-3838dup
ENST00000592612.1:n.251-3842_251-3841dup
NM_002378.3:c.-58+4292_-58+4293dup	NP_002369.2:n.-58+4292_-58+4293dup
XM_011528019.1:c.-58+4292_-58+4293dup	XP_011526321.1:n.-58+4292_-58+4293dup
NM_002378.4:c.-58+4292_-58+4293dup	NP_002369.2:n.-58+4292_-58+4293dup