Canonical Allele Identifier: CA1922576853

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273535_80273536delinsGC , CM000672.2:g.80273535_80273536delinsGC	GRCh38
NC_000010.10:g.82033291_82033292delinsGC , CM000672.1:g.82033291_82033292delinsGC	GRCh37
NC_000010.9:g.82023271_82023272delinsGC	NCBI36
NG_008083.1:g.21143_21144delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*245_*246delinsGC MANE Select	ENSP00000361287.3:n.*245_*246delinsGC
ENST00000372213.7:c.*245_*246delinsGC	ENSP00000361287.3:n.*245_*246delinsGC
ENST00000480845.1:n.620+45_620+46delinsGC
ENST00000485270.5:n.945_946delinsGC
NM_000429.2:c.*245_*246delinsGC	NP_000420.1:n.*245_*246delinsGC
XM_005269842.3:c.*245_*246delinsGC	XP_005269899.1:n.*245_*246delinsGC
XM_005269843.3:c.*245_*246delinsGC	XP_005269900.1:n.*245_*246delinsGC
NM_000429.3:c.*245_*246delinsGC MANE Select	NP_000420.1:n.*245_*246delinsGC