Canonical Allele Identifier: CA2692134588

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489256-T-TTGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489256_130489257insTGCTG , CM000671.2:g.130489256_130489257insTGCTG	GRCh38
NC_000009.11:g.133364643_133364644insTGCTG , CM000671.1:g.133364643_133364644insTGCTG	GRCh37
NC_000009.10:g.132354464_132354465insTGCTG	NCBI36
NG_011542.1:g.49550_49551insTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-77_839-76insTGCTG MANE Select	ENSP00000253004.6:n.839-77_839-76insTGCTG
ENST00000352480.9:c.839-77_839-76insTGCTG	ENSP00000253004.6:n.839-77_839-76insTGCTG
ENST00000372386.6:n.110-77_110-76insTGCTG
ENST00000372393.7:c.839-77_839-76insTGCTG	ENSP00000361469.2:n.839-77_839-76insTGCTG
ENST00000372394.5:c.839-77_839-76insTGCTG	ENSP00000361471.1:n.839-77_839-76insTGCTG
ENST00000470849.4:n.564-77_564-76insTGCTG
ENST00000492400.5:n.348-77_348-76insTGCTG
ENST00000493984.6:n.616-77_616-76insTGCTG
NM_000050.4:c.839-77_839-76insTGCTG	NP_000041.2:n.839-77_839-76insTGCTG
NM_054012.3:c.839-77_839-76insTGCTG	NP_446464.1:n.839-77_839-76insTGCTG
XM_005272200.2:c.839-77_839-76insTGCTG	XP_005272257.1:n.839-77_839-76insTGCTG
XM_011518705.1:c.953-77_953-76insTGCTG	XP_011517007.1:n.953-77_953-76insTGCTG
XM_005272200.3:c.839-77_839-76insTGCTG	XP_005272257.1:n.839-77_839-76insTGCTG
XM_011518705.2:c.953-77_953-76insTGCTG	XP_011517007.1:n.953-77_953-76insTGCTG
XM_017014729.1:c.935-77_935-76insTGCTG	XP_016870218.1:n.935-77_935-76insTGCTG
NM_054012.4:c.839-77_839-76insTGCTG MANE Select	NP_446464.1:n.839-77_839-76insTGCTG