Canonical Allele Identifier: CA2786082790
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489274_130489275insTTTTTTTT , CM000671.2:g.130489274_130489275insTTTTTTTT GRCh38
NC_000009.11:g.133364661_133364662insTTTTTTTT , CM000671.1:g.133364661_133364662insTTTTTTTT GRCh37
NC_000009.10:g.132354482_132354483insTTTTTTTT NCBI36
NG_011542.1:g.49568_49569insTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.839-59_839-58insTTTTTTTT MANE Select ENSP00000253004.6:n.839-59_839-58insTTTTTTTT
ENST00000352480.9:c.839-59_839-58insTTTTTTTT ENSP00000253004.6:n.839-59_839-58insTTTTTTTT
ENST00000372386.6:n.110-59_110-58insTTTTTTTT
ENST00000372393.7:c.839-59_839-58insTTTTTTTT ENSP00000361469.2:n.839-59_839-58insTTTTTTTT
ENST00000372394.5:c.839-59_839-58insTTTTTTTT ENSP00000361471.1:n.839-59_839-58insTTTTTTTT
ENST00000470849.4:n.564-59_564-58insTTTTTTTT
ENST00000492400.5:n.348-59_348-58insTTTTTTTT
ENST00000493984.6:n.616-59_616-58insTTTTTTTT
NM_000050.4:c.839-59_839-58insTTTTTTTT NP_000041.2:n.839-59_839-58insTTTTTTTT
NM_054012.3:c.839-59_839-58insTTTTTTTT NP_446464.1:n.839-59_839-58insTTTTTTTT
XM_005272200.2:c.839-59_839-58insTTTTTTTT XP_005272257.1:n.839-59_839-58insTTTTTTTT
XM_011518705.1:c.953-59_953-58insTTTTTTTT XP_011517007.1:n.953-59_953-58insTTTTTTTT
XM_005272200.3:c.839-59_839-58insTTTTTTTT XP_005272257.1:n.839-59_839-58insTTTTTTTT
XM_011518705.2:c.953-59_953-58insTTTTTTTT XP_011517007.1:n.953-59_953-58insTTTTTTTT
XM_017014729.1:c.935-59_935-58insTTTTTTTT XP_016870218.1:n.935-59_935-58insTTTTTTTT
NM_054012.4:c.839-59_839-58insTTTTTTTT MANE Select NP_446464.1:n.839-59_839-58insTTTTTTTT