Canonical Allele Identifier: CA2692134545

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489254-T-TGGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489254_130489255insGGTCA , CM000671.2:g.130489254_130489255insGGTCA	GRCh38
NC_000009.11:g.133364641_133364642insGGTCA , CM000671.1:g.133364641_133364642insGGTCA	GRCh37
NC_000009.10:g.132354462_132354463insGGTCA	NCBI36
NG_011542.1:g.49548_49549insGGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-79_839-78insGGTCA MANE Select	ENSP00000253004.6:n.839-79_839-78insGGTCA
ENST00000352480.9:c.839-79_839-78insGGTCA	ENSP00000253004.6:n.839-79_839-78insGGTCA
ENST00000372386.6:n.110-79_110-78insGGTCA
ENST00000372393.7:c.839-79_839-78insGGTCA	ENSP00000361469.2:n.839-79_839-78insGGTCA
ENST00000372394.5:c.839-79_839-78insGGTCA	ENSP00000361471.1:n.839-79_839-78insGGTCA
ENST00000470849.4:n.564-79_564-78insGGTCA
ENST00000492400.5:n.348-79_348-78insGGTCA
ENST00000493984.6:n.616-79_616-78insGGTCA
NM_000050.4:c.839-79_839-78insGGTCA	NP_000041.2:n.839-79_839-78insGGTCA
NM_054012.3:c.839-79_839-78insGGTCA	NP_446464.1:n.839-79_839-78insGGTCA
XM_005272200.2:c.839-79_839-78insGGTCA	XP_005272257.1:n.839-79_839-78insGGTCA
XM_011518705.1:c.953-79_953-78insGGTCA	XP_011517007.1:n.953-79_953-78insGGTCA
XM_005272200.3:c.839-79_839-78insGGTCA	XP_005272257.1:n.839-79_839-78insGGTCA
XM_011518705.2:c.953-79_953-78insGGTCA	XP_011517007.1:n.953-79_953-78insGGTCA
XM_017014729.1:c.935-79_935-78insGGTCA	XP_016870218.1:n.935-79_935-78insGGTCA
NM_054012.4:c.839-79_839-78insGGTCA MANE Select	NP_446464.1:n.839-79_839-78insGGTCA