Canonical Allele Identifier: CA1881276637

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489390_130489392delinsCCT , CM000671.2:g.130489390_130489392delinsCCT	GRCh38
NC_000009.11:g.133364777_133364779delinsCCT , CM000671.1:g.133364777_133364779delinsCCT	GRCh37
NC_000009.10:g.132354598_132354600delinsCCT	NCBI36
NG_011542.1:g.49684_49686delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.896_898delinsCCT MANE Select	ENSP00000253004.6:p.Ala299=
ENST00000352480.9:c.896_898delinsCCT	ENSP00000253004.6:p.Ala299=
ENST00000372386.6:n.167_169delinsCCT
ENST00000372393.7:c.896_898delinsCCT	ENSP00000361469.2:p.Ala299=
ENST00000372394.5:c.896_898delinsCCT	ENSP00000361471.1:p.Ala299=
ENST00000470849.4:n.621_623delinsCCT
ENST00000492400.5:n.405_407delinsCCT
ENST00000493984.6:n.673_675delinsCCT
NM_000050.4:c.896_898delinsCCT	NP_000041.2:p.Ala299=
NM_054012.3:c.896_898delinsCCT	NP_446464.1:p.Ala299=
XM_005272200.2:c.896_898delinsCCT	XP_005272257.1:p.Ala299=
XM_011518705.1:c.1010_1012delinsCCT	XP_011517007.1:p.Ala337=
XM_005272200.3:c.896_898delinsCCT	XP_005272257.1:p.Ala299=
XM_011518705.2:c.1010_1012delinsCCT	XP_011517007.1:p.Ala337=
XM_017014729.1:c.992_994delinsCCT	XP_016870218.1:p.Ala331=
NM_054012.4:c.896_898delinsCCT MANE Select	NP_446464.1:p.Ala299=