Canonical Allele Identifier: CA5158690

Gene: INVS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100293039C>A , CM000671.2:g.100293039C>A	GRCh38
NC_000009.11:g.103055321C>A , CM000671.1:g.103055321C>A	GRCh37
NC_000009.10:g.102095142C>A	NCBI36
NG_008316.1:g.198811C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.2782C>A MANE Select	ENSP00000262457.2:p.Arg928=
ENST00000262456.6:c.2272C>A	ENSP00000262456.2:p.Arg758=
ENST00000262457.6:c.2782C>A	ENSP00000262457.2:p.Arg928=
NM_014425.3:c.2782C>A	NP_055240.2:p.Arg928=
NM_183245.2:c.2272C>A	NP_899068.1:p.Arg758=
NR_051962.1:n.3091C>A
XM_005251923.3:c.2782C>A	XP_005251980.1:p.Arg928=
XM_005251924.3:c.2494C>A	XP_005251981.1:p.Arg832=
XM_011518531.1:c.2782C>A	XP_011516833.1:p.Arg928=
XM_011518532.1:c.2782C>A	XP_011516834.1:p.Arg928=
XM_011518533.1:c.2782C>A	XP_011516835.1:p.Arg928=
XM_011518534.1:c.2494C>A	XP_011516836.1:p.Arg832=
XM_011518535.1:c.2494C>A	XP_011516837.1:p.Arg832=
XM_011518536.1:c.2494C>A	XP_011516838.1:p.Arg832=
XM_011518537.1:c.2494C>A	XP_011516839.1:p.Arg832=
XM_011518538.1:c.2494C>A	XP_011516840.1:p.Arg832=
XM_011518539.1:c.2461C>A	XP_011516841.1:p.Arg821=
XM_011518540.1:c.2461C>A	XP_011516842.1:p.Arg821=
XM_011518541.1:c.2461C>A	XP_011516843.1:p.Arg821=
XM_011518542.1:c.1984C>A	XP_011516844.1:p.Arg662=
XM_011518543.1:c.1804C>A	XP_011516845.1:p.Arg602=
XM_011518544.1:c.1804C>A	XP_011516846.1:p.Arg602=
XR_242585.1:n.2965C>A
XR_242586.1:n.2989C>A
XR_428522.1:n.2479C>A
NM_001318381.1:c.2494C>A	NP_001305310.1:p.Arg832=
NM_001318382.1:c.1804C>A	NP_001305311.1:p.Arg602=
NM_014425.4:c.2782C>A	NP_055240.2:p.Arg928=
NR_134606.1:n.2989C>A
NM_014425.5:c.2782C>A MANE Select	NP_055240.2:p.Arg928=
NM_001318381.2:c.2494C>A	NP_001305310.1:p.Arg832=
NM_001318382.2:c.1804C>A	NP_001305311.1:p.Arg602=
NR_134606.2:n.2931C>A