Canonical Allele Identifier: CA240330

Gene: INVS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100292943G>A , CM000671.2:g.100292943G>A	GRCh38
NC_000009.11:g.103055225G>A , CM000671.1:g.103055225G>A	GRCh37
NC_000009.10:g.102095046G>A	NCBI36
NG_008316.1:g.198715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.2686G>A MANE Select	ENSP00000262457.2:p.Val896Ile
ENST00000262456.6:c.2180-4G>A	ENSP00000262456.2:n.2180-4G>A
ENST00000262457.6:c.2686G>A	ENSP00000262457.2:p.Val896Ile
NM_014425.3:c.2686G>A	NP_055240.2:p.Val896Ile
NM_183245.2:c.2180-4G>A	NP_899068.1:n.2180-4G>A
NR_051962.1:n.2995G>A
XM_005251923.3:c.2686G>A	XP_005251980.1:p.Val896Ile
XM_005251924.3:c.2398G>A	XP_005251981.1:p.Val800Ile
XM_011518531.1:c.2686G>A	XP_011516833.1:p.Val896Ile
XM_011518532.1:c.2686G>A	XP_011516834.1:p.Val896Ile
XM_011518533.1:c.2686G>A	XP_011516835.1:p.Val896Ile
XM_011518534.1:c.2398G>A	XP_011516836.1:p.Val800Ile
XM_011518535.1:c.2398G>A	XP_011516837.1:p.Val800Ile
XM_011518536.1:c.2398G>A	XP_011516838.1:p.Val800Ile
XM_011518537.1:c.2398G>A	XP_011516839.1:p.Val800Ile
XM_011518538.1:c.2398G>A	XP_011516840.1:p.Val800Ile
XM_011518539.1:c.2365G>A	XP_011516841.1:p.Val789Ile
XM_011518540.1:c.2365G>A	XP_011516842.1:p.Val789Ile
XM_011518541.1:c.2365G>A	XP_011516843.1:p.Val789Ile
XM_011518542.1:c.1892-4G>A	XP_011516844.1:n.1892-4G>A
XM_011518543.1:c.1708G>A	XP_011516845.1:p.Val570Ile
XM_011518544.1:c.1708G>A	XP_011516846.1:p.Val570Ile
XR_242585.1:n.2873-4G>A
XR_242586.1:n.2893G>A
XR_428522.1:n.2387-4G>A
NM_001318381.1:c.2398G>A	NP_001305310.1:p.Val800Ile
NM_001318382.1:c.1708G>A	NP_001305311.1:p.Val570Ile
NM_014425.4:c.2686G>A	NP_055240.2:p.Val896Ile
NR_134606.1:n.2893G>A
NM_014425.5:c.2686G>A MANE Select	NP_055240.2:p.Val896Ile
NM_001318381.2:c.2398G>A	NP_001305310.1:p.Val800Ile
NM_001318382.2:c.1708G>A	NP_001305311.1:p.Val570Ile
NR_134606.2:n.2835G>A