Canonical Allele Identifier: CA5283587

Gene: ASS1

Linked Data

• dbSNP Id: rs763386082
• ExAC: 9:133364868 GGCT / G
• gnomAD v2: 9-133364868-GGCT-G
• gnomAD v4: 9-130489481-GGCT-G
• MyVariant Identifiers: chr9:g.133364869_133364871del (hg19) ; chr9:g.130489482_130489484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489484_130489486del , CM000671.2:g.130489484_130489486del	GRCh38
NC_000009.11:g.133364871_133364873del , CM000671.1:g.133364871_133364873del	GRCh37
NC_000009.10:g.132354692_132354694del	NCBI36
NG_011542.1:g.49778_49780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.970+20_970+22del MANE Select	ENSP00000253004.6:n.970+20_970+22del
ENST00000352480.9:c.970+20_970+22del	ENSP00000253004.6:n.970+20_970+22del
ENST00000372386.6:n.241+20_241+22del
ENST00000372393.7:c.970+20_970+22del	ENSP00000361469.2:n.970+20_970+22del
ENST00000372394.5:c.970+20_970+22del	ENSP00000361471.1:n.970+20_970+22del
NM_000050.4:c.970+20_970+22del	NP_000041.2:n.970+20_970+22del
NM_054012.3:c.970+20_970+22del	NP_446464.1:n.970+20_970+22del
XM_005272200.2:c.970+20_970+22del	XP_005272257.1:n.970+20_970+22del
XM_011518705.1:c.1084+20_1084+22del	XP_011517007.1:n.1084+20_1084+22del
XM_005272200.3:c.970+20_970+22del	XP_005272257.1:n.970+20_970+22del
XM_011518705.2:c.1084+20_1084+22del	XP_011517007.1:n.1084+20_1084+22del
XM_017014729.1:c.1066+20_1066+22del	XP_016870218.1:n.1066+20_1066+22del
NM_054012.4:c.970+20_970+22del MANE Select	NP_446464.1:n.970+20_970+22del