Canonical Allele Identifier: CA5158827
Gene: INVS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.100300601del , CM000671.2:g.100300601del GRCh38
NC_000009.11:g.103062883del , CM000671.1:g.103062883del GRCh37
NC_000009.10:g.102102704del NCBI36
NG_008316.1:g.206373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262457.7:c.3125del MANE Select ENSP00000262457.2:p.Asn1042ThrfsTer?
ENST00000262456.6:c.2615del ENSP00000262456.2:p.Asn872ThrfsTer?
ENST00000262457.6:c.3125del ENSP00000262457.2:p.Asn1042ThrfsTer?
NM_014425.3:c.3125del NP_055240.2:p.Asn1042ThrfsTer?
NM_183245.2:c.2615del NP_899068.1:p.Asn872ThrfsTer?
NR_051962.1:n.3434del
XM_011518533.1:c.3091+2591del XP_011516835.1:n.3091+2591del
XM_011518539.1:c.2804del XP_011516841.1:p.Asn935ThrfsTer?
XM_011518540.1:c.2804del XP_011516842.1:p.Asn935ThrfsTer?
XM_011518541.1:c.2804del XP_011516843.1:p.Asn935ThrfsTer?
XM_011518542.1:c.2327del XP_011516844.1:p.Asn776ThrfsTer?
XM_011518543.1:c.2147del XP_011516845.1:p.Asn716ThrfsTer?
XM_011518544.1:c.2147del XP_011516846.1:p.Asn716ThrfsTer?
XR_242585.1:n.3308del
XR_242586.1:n.3332del
XR_428522.1:n.2822del
NM_001318381.1:c.2837del NP_001305310.1:p.Asn946ThrfsTer?
NM_001318382.1:c.2147del NP_001305311.1:p.Asn716ThrfsTer?
NM_014425.4:c.3125del NP_055240.2:p.Asn1042ThrfsTer?
NR_134606.1:n.3332del
NM_014425.5:c.3125del MANE Select NP_055240.2:p.Asn1042ThrfsTer?
NM_001318381.2:c.2837del NP_001305310.1:p.Asn946ThrfsTer?
NM_001318382.2:c.2147del NP_001305311.1:p.Asn716ThrfsTer?
NR_134606.2:n.3274del
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