Canonical Allele Identifier: CA2609912487

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273501-TTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273502_80273504del , CM000672.2:g.80273502_80273504del	GRCh38
NC_000010.10:g.82033258_82033260del , CM000672.1:g.82033258_82033260del	GRCh37
NC_000010.9:g.82023238_82023240del	NCBI36
NG_008083.1:g.21175_21177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*277_*279del MANE Select	ENSP00000361287.3:n.*277_*279del
ENST00000372213.7:c.*277_*279del	ENSP00000361287.3:n.*277_*279del
ENST00000480845.1:n.620+77_620+79del
ENST00000485270.5:n.977_979del
NM_000429.2:c.*277_*279del	NP_000420.1:n.*277_*279del
XM_005269842.3:c.*277_*279del	XP_005269899.1:n.*277_*279del
XM_005269843.3:c.*277_*279del	XP_005269900.1:n.*277_*279del
NM_000429.3:c.*277_*279del MANE Select	NP_000420.1:n.*277_*279del