Canonical Allele Identifier: CA5158801
Gene: INVS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.100298104T>G , CM000671.2:g.100298104T>G GRCh38
NC_000009.11:g.103060386T>G , CM000671.1:g.103060386T>G GRCh37
NC_000009.10:g.102100207T>G NCBI36
NG_008316.1:g.203876T>G

Transcript Alleles

HGVS Amino-acid Change
NM_014425.5:c.3091+94T>G MANE Select NP_055240.2:n.3091+94T>G
ENST00000262457.7:c.3091+94T>G MANE Select ENSP00000262457.2:n.3091+94T>G
NM_001318381.1:c.2803+94T>G NP_001305310.1:n.2803+94T>G
NM_001318381.2:c.2803+94T>G NP_001305310.1:n.2803+94T>G
NM_001318382.1:c.2113+94T>G NP_001305311.1:n.2113+94T>G
NM_001318382.2:c.2113+94T>G NP_001305311.1:n.2113+94T>G
NM_014425.3:c.3091+94T>G NP_055240.2:n.3091+94T>G
NM_014425.4:c.3091+94T>G NP_055240.2:n.3091+94T>G
NM_183245.2:c.2581+94T>G NP_899068.1:n.2581+94T>G
NR_051962.1:n.3400+94T>G
NR_134606.1:n.3298+94T>G
NR_134606.2:n.3240+94T>G
ENST00000262456.6:c.2581+94T>G ENSP00000262456.2:n.2581+94T>G
ENST00000262457.6:c.3091+94T>G ENSP00000262457.2:n.3091+94T>G
XM_005251923.3:c.3185T>G XP_005251980.1:p.Ile1062Arg
XM_005251924.3:c.2897T>G XP_005251981.1:p.Ile966Arg
XM_011518531.1:c.3185T>G XP_011516833.1:p.Ile1062Arg
XM_011518532.1:c.3185T>G XP_011516834.1:p.Ile1062Arg
XM_011518533.1:c.3091+94T>G XP_011516835.1:n.3091+94T>G
XM_011518534.1:c.2897T>G XP_011516836.1:p.Ile966Arg
XM_011518535.1:c.2897T>G XP_011516837.1:p.Ile966Arg
XM_011518536.1:c.2897T>G XP_011516838.1:p.Ile966Arg
XM_011518537.1:c.2897T>G XP_011516839.1:p.Ile966Arg
XM_011518538.1:c.2897T>G XP_011516840.1:p.Ile966Arg
XM_011518539.1:c.2770+94T>G XP_011516841.1:n.2770+94T>G
XM_011518540.1:c.2770+94T>G XP_011516842.1:n.2770+94T>G
XM_011518541.1:c.2770+94T>G XP_011516843.1:n.2770+94T>G
XM_011518542.1:c.2293+94T>G XP_011516844.1:n.2293+94T>G
XM_011518543.1:c.2113+94T>G XP_011516845.1:n.2113+94T>G
XM_011518544.1:c.2113+94T>G XP_011516846.1:n.2113+94T>G
XR_242585.1:n.3274+94T>G
XR_242586.1:n.3298+94T>G
XR_428522.1:n.2788+94T>G