Canonical Allele Identifier: CA1127333144

Gene: INVS

Linked Data

• dbSNP Id: rs1831813472
• gnomAD v3: 9-100239972-AAAAG-A
• gnomAD v4: 9-100239972-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100239984_100239987del , CM000671.2:g.100239984_100239987del	GRCh38
NC_000009.11:g.103002266_103002269del , CM000671.1:g.103002266_103002269del	GRCh37
NC_000009.10:g.102042087_102042090del	NCBI36
NG_008316.1:g.145756_145759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262457.7:c.616-76_616-73del MANE Select	ENSP00000262457.2:n.616-76_616-73del
ENST00000262456.6:c.616-76_616-73del	ENSP00000262456.2:n.616-76_616-73del
ENST00000262457.6:c.616-76_616-73del	ENSP00000262457.2:n.616-76_616-73del
ENST00000460636.2:n.888-76_888-73del
NM_014425.3:c.616-76_616-73del	NP_055240.2:n.616-76_616-73del
NM_183245.2:c.616-76_616-73del	NP_899068.1:n.616-76_616-73del
NR_051962.1:n.925-76_925-73del
XM_005251923.3:c.616-76_616-73del	XP_005251980.1:n.616-76_616-73del
XM_005251924.3:c.328-76_328-73del	XP_005251981.1:n.328-76_328-73del
XM_011518531.1:c.616-76_616-73del	XP_011516833.1:n.616-76_616-73del
XM_011518532.1:c.616-76_616-73del	XP_011516834.1:n.616-76_616-73del
XM_011518533.1:c.616-76_616-73del	XP_011516835.1:n.616-76_616-73del
XM_011518534.1:c.328-76_328-73del	XP_011516836.1:n.328-76_328-73del
XM_011518535.1:c.328-76_328-73del	XP_011516837.1:n.328-76_328-73del
XM_011518536.1:c.328-76_328-73del	XP_011516838.1:n.328-76_328-73del
XM_011518537.1:c.328-76_328-73del	XP_011516839.1:n.328-76_328-73del
XM_011518538.1:c.328-76_328-73del	XP_011516840.1:n.328-76_328-73del
XM_011518539.1:c.295-76_295-73del	XP_011516841.1:n.295-76_295-73del
XM_011518540.1:c.295-76_295-73del	XP_011516842.1:n.295-76_295-73del
XM_011518541.1:c.295-76_295-73del	XP_011516843.1:n.295-76_295-73del
XM_011518542.1:c.328-76_328-73del	XP_011516844.1:n.328-76_328-73del
XM_011518543.1:c.-374-76_-374-73del	XP_011516845.1:n.-374-76_-374-73del
XR_242585.1:n.872-76_872-73del
XR_242586.1:n.872-76_872-73del
XR_428522.1:n.872-76_872-73del
NM_001318381.1:c.328-76_328-73del	NP_001305310.1:n.328-76_328-73del
NM_001318382.1:c.-374-76_-374-73del	NP_001305311.1:n.-374-76_-374-73del
NM_014425.4:c.616-76_616-73del	NP_055240.2:n.616-76_616-73del
NR_134606.1:n.872-76_872-73del
NM_014425.5:c.616-76_616-73del MANE Select	NP_055240.2:n.616-76_616-73del
NM_001318381.2:c.328-76_328-73del	NP_001305310.1:n.328-76_328-73del
NM_001318382.2:c.-374-76_-374-73del	NP_001305311.1:n.-374-76_-374-73del
NR_134606.2:n.814-76_814-73del