Canonical Allele Identifier: CA2695211474

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480401_130480402del , CM000671.2:g.130480401_130480402del	GRCh38
NC_000009.11:g.133355788_133355789del , CM000671.1:g.133355788_133355789del	GRCh37
NC_000009.10:g.132345609_132345610del	NCBI36
NG_011542.1:g.40695_40696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.790_791del MANE Select	ENSP00000253004.6:p.Gly264ProfsTer3
ENST00000352480.9:c.790_791del	ENSP00000253004.6:p.Gly264ProfsTer3
ENST00000372386.6:n.61_62del
ENST00000372393.7:c.790_791del	ENSP00000361469.2:p.Gly264ProfsTer3
ENST00000372394.5:c.790_791del	ENSP00000361471.1:p.Gly264ProfsTer3
ENST00000470849.4:n.515_516del
ENST00000492400.5:n.299_300del
ENST00000493984.6:n.567_568del
NM_000050.4:c.790_791del	NP_000041.2:p.Gly264ProfsTer3
NM_054012.3:c.790_791del	NP_446464.1:p.Gly264ProfsTer3
XM_005272200.2:c.790_791del	XP_005272257.1:p.Gly264ProfsTer3
XM_011518705.1:c.904_905del	XP_011517007.1:p.Gly302ProfsTer3
XM_005272200.3:c.790_791del	XP_005272257.1:p.Gly264ProfsTer3
XM_011518705.2:c.904_905del	XP_011517007.1:p.Gly302ProfsTer3
XM_017014729.1:c.886_887del	XP_016870218.1:p.Gly296ProfsTer3
NM_054012.4:c.790_791del MANE Select	NP_446464.1:p.Gly264ProfsTer3