Canonical Allele Identifier: CA1881272008
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480442_130480443delinsGT , CM000671.2:g.130480442_130480443delinsGT GRCh38
NC_000009.11:g.133355829_133355830delinsGT , CM000671.1:g.133355829_133355830delinsGT GRCh37
NC_000009.10:g.132345650_132345651delinsGT NCBI36
NG_011542.1:g.40736_40737delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.831_832delinsGT MANE Select ENSP00000253004.6:p.Lys277=
ENST00000352480.9:c.831_832delinsGT ENSP00000253004.6:p.Lys277=
ENST00000372386.6:n.102_103delinsGT
ENST00000372393.7:c.831_832delinsGT ENSP00000361469.2:p.Lys277=
ENST00000372394.5:c.831_832delinsGT ENSP00000361471.1:p.Lys277=
ENST00000470849.4:n.556_557delinsGT
ENST00000492400.5:n.340_341delinsGT
ENST00000493984.6:n.608_609delinsGT
NM_000050.4:c.831_832delinsGT NP_000041.2:p.Lys277=
NM_054012.3:c.831_832delinsGT NP_446464.1:p.Lys277=
XM_005272200.2:c.831_832delinsGT XP_005272257.1:p.Lys277=
XM_011518705.1:c.945_946delinsGT XP_011517007.1:p.Lys315=
XM_005272200.3:c.831_832delinsGT XP_005272257.1:p.Lys277=
XM_011518705.2:c.945_946delinsGT XP_011517007.1:p.Lys315=
XM_017014729.1:c.927_928delinsGT XP_016870218.1:p.Lys309=
NM_054012.4:c.831_832delinsGT MANE Select NP_446464.1:p.Lys277=