Canonical Allele Identifier: CA2692134166

Gene: ASS1

Linked Data

• gnomAD v4: 9-130480508-C-CCGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480508_130480509insCGAGG , CM000671.2:g.130480508_130480509insCGAGG	GRCh38
NC_000009.11:g.133355895_133355896insCGAGG , CM000671.1:g.133355895_133355896insCGAGG	GRCh37
NC_000009.10:g.132345716_132345717insCGAGG	NCBI36
NG_011542.1:g.40802_40803insCGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+59_838+60insCGAGG MANE Select	ENSP00000253004.6:n.838+59_838+60insCGAGG
ENST00000352480.9:c.838+59_838+60insCGAGG	ENSP00000253004.6:n.838+59_838+60insCGAGG
ENST00000372386.6:n.109+59_109+60insCGAGG
ENST00000372393.7:c.838+59_838+60insCGAGG	ENSP00000361469.2:n.838+59_838+60insCGAGG
ENST00000372394.5:c.838+59_838+60insCGAGG	ENSP00000361471.1:n.838+59_838+60insCGAGG
ENST00000470849.4:n.563+59_563+60insCGAGG
ENST00000492400.5:n.347+59_347+60insCGAGG
ENST00000493984.6:n.615+59_615+60insCGAGG
NM_000050.4:c.838+59_838+60insCGAGG	NP_000041.2:n.838+59_838+60insCGAGG
NM_054012.3:c.838+59_838+60insCGAGG	NP_446464.1:n.838+59_838+60insCGAGG
XM_005272200.2:c.838+59_838+60insCGAGG	XP_005272257.1:n.838+59_838+60insCGAGG
XM_011518705.1:c.952+59_952+60insCGAGG	XP_011517007.1:n.952+59_952+60insCGAGG
XM_005272200.3:c.838+59_838+60insCGAGG	XP_005272257.1:n.838+59_838+60insCGAGG
XM_011518705.2:c.952+59_952+60insCGAGG	XP_011517007.1:n.952+59_952+60insCGAGG
XM_017014729.1:c.934+59_934+60insCGAGG	XP_016870218.1:n.934+59_934+60insCGAGG
NM_054012.4:c.838+59_838+60insCGAGG MANE Select	NP_446464.1:n.838+59_838+60insCGAGG