Canonical Allele Identifier: CA2579483607

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489477-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489479_130489480del , CM000671.2:g.130489479_130489480del	GRCh38
NC_000009.11:g.133364866_133364867del , CM000671.1:g.133364866_133364867del	GRCh37
NC_000009.10:g.132354687_132354688del	NCBI36
NG_011542.1:g.49773_49774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+15_970+16del MANE Select	ENSP00000253004.6:n.970+15_970+16del
ENST00000352480.9:c.970+15_970+16del	ENSP00000253004.6:n.970+15_970+16del
ENST00000372386.6:n.241+15_241+16del
ENST00000372393.7:c.970+15_970+16del	ENSP00000361469.2:n.970+15_970+16del
ENST00000372394.5:c.970+15_970+16del	ENSP00000361471.1:n.970+15_970+16del
NM_000050.4:c.970+15_970+16del	NP_000041.2:n.970+15_970+16del
NM_054012.3:c.970+15_970+16del	NP_446464.1:n.970+15_970+16del
XM_005272200.2:c.970+15_970+16del	XP_005272257.1:n.970+15_970+16del
XM_011518705.1:c.1084+15_1084+16del	XP_011517007.1:n.1084+15_1084+16del
XM_005272200.3:c.970+15_970+16del	XP_005272257.1:n.970+15_970+16del
XM_011518705.2:c.1084+15_1084+16del	XP_011517007.1:n.1084+15_1084+16del
XM_017014729.1:c.1066+15_1066+16del	XP_016870218.1:n.1066+15_1066+16del
NM_054012.4:c.970+15_970+16del MANE Select	NP_446464.1:n.970+15_970+16del