Canonical Allele Identifier: CA2692134587

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489256-T-TGGTCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489257_130489258insGTCATGG , CM000671.2:g.130489257_130489258insGTCATGG	GRCh38
NC_000009.11:g.133364644_133364645insGTCATGG , CM000671.1:g.133364644_133364645insGTCATGG	GRCh37
NC_000009.10:g.132354465_132354466insGTCATGG	NCBI36
NG_011542.1:g.49551_49552insGTCATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-76_839-75insGTCATGG MANE Select	ENSP00000253004.6:n.839-76_839-75insGTCATGG
ENST00000352480.9:c.839-76_839-75insGTCATGG	ENSP00000253004.6:n.839-76_839-75insGTCATGG
ENST00000372386.6:n.110-76_110-75insGTCATGG
ENST00000372393.7:c.839-76_839-75insGTCATGG	ENSP00000361469.2:n.839-76_839-75insGTCATGG
ENST00000372394.5:c.839-76_839-75insGTCATGG	ENSP00000361471.1:n.839-76_839-75insGTCATGG
ENST00000470849.4:n.564-76_564-75insGTCATGG
ENST00000492400.5:n.348-76_348-75insGTCATGG
ENST00000493984.6:n.616-76_616-75insGTCATGG
NM_000050.4:c.839-76_839-75insGTCATGG	NP_000041.2:n.839-76_839-75insGTCATGG
NM_054012.3:c.839-76_839-75insGTCATGG	NP_446464.1:n.839-76_839-75insGTCATGG
XM_005272200.2:c.839-76_839-75insGTCATGG	XP_005272257.1:n.839-76_839-75insGTCATGG
XM_011518705.1:c.953-76_953-75insGTCATGG	XP_011517007.1:n.953-76_953-75insGTCATGG
XM_005272200.3:c.839-76_839-75insGTCATGG	XP_005272257.1:n.839-76_839-75insGTCATGG
XM_011518705.2:c.953-76_953-75insGTCATGG	XP_011517007.1:n.953-76_953-75insGTCATGG
XM_017014729.1:c.935-76_935-75insGTCATGG	XP_016870218.1:n.935-76_935-75insGTCATGG
NM_054012.4:c.839-76_839-75insGTCATGG MANE Select	NP_446464.1:n.839-76_839-75insGTCATGG