Canonical Allele Identifier: CA374244501

Gene: INVS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100293045T>C , CM000671.2:g.100293045T>C	GRCh38
NC_000009.11:g.103055327T>C , CM000671.1:g.103055327T>C	GRCh37
NC_000009.10:g.102095148T>C	NCBI36
NG_008316.1:g.198817T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014425.5:c.2786+2T>C MANE Select	NP_055240.2:n.2786+2T>C
ENST00000262457.7:c.2786+2T>C MANE Select	ENSP00000262457.2:n.2786+2T>C
NM_001318381.1:c.2498+2T>C	NP_001305310.1:n.2498+2T>C
NM_001318381.2:c.2498+2T>C	NP_001305310.1:n.2498+2T>C
NM_001318382.1:c.1808+2T>C	NP_001305311.1:n.1808+2T>C
NM_001318382.2:c.1808+2T>C	NP_001305311.1:n.1808+2T>C
NM_014425.3:c.2786+2T>C	NP_055240.2:n.2786+2T>C
NM_014425.4:c.2786+2T>C	NP_055240.2:n.2786+2T>C
NM_183245.2:c.2276+2T>C	NP_899068.1:n.2276+2T>C
NR_051962.1:n.3095+2T>C
NR_134606.1:n.2993+2T>C
NR_134606.2:n.2935+2T>C
ENST00000262456.6:c.2276+2T>C	ENSP00000262456.2:n.2276+2T>C
ENST00000262457.6:c.2786+2T>C	ENSP00000262457.2:n.2786+2T>C
XM_005251923.3:c.2786+2T>C	XP_005251980.1:n.2786+2T>C
XM_005251924.3:c.2498+2T>C	XP_005251981.1:n.2498+2T>C
XM_011518531.1:c.2786+2T>C	XP_011516833.1:n.2786+2T>C
XM_011518532.1:c.2786+2T>C	XP_011516834.1:n.2786+2T>C
XM_011518533.1:c.2786+2T>C	XP_011516835.1:n.2786+2T>C
XM_011518534.1:c.2498+2T>C	XP_011516836.1:n.2498+2T>C
XM_011518535.1:c.2498+2T>C	XP_011516837.1:n.2498+2T>C
XM_011518536.1:c.2498+2T>C	XP_011516838.1:n.2498+2T>C
XM_011518537.1:c.2498+2T>C	XP_011516839.1:n.2498+2T>C
XM_011518538.1:c.2498+2T>C	XP_011516840.1:n.2498+2T>C
XM_011518539.1:c.2465+2T>C	XP_011516841.1:n.2465+2T>C
XM_011518540.1:c.2465+2T>C	XP_011516842.1:n.2465+2T>C
XM_011518541.1:c.2465+2T>C	XP_011516843.1:n.2465+2T>C
XM_011518542.1:c.1988+2T>C	XP_011516844.1:n.1988+2T>C
XM_011518543.1:c.1808+2T>C	XP_011516845.1:n.1808+2T>C
XM_011518544.1:c.1808+2T>C	XP_011516846.1:n.1808+2T>C
XR_242585.1:n.2969+2T>C
XR_242586.1:n.2993+2T>C
XR_428522.1:n.2483+2T>C