Canonical Allele Identifier: CA2499217041
Community Standard Title: NM_198506.5(LRIT3):c.524_525delinsAT (p.Ser175Asn)
Gene: LRIT3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109851911_109851912delinsAT , CM000666.2:g.109851911_109851912delinsAT GRCh38
NC_000004.11:g.110773067_110773068delinsAT , CM000666.1:g.110773067_110773068delinsAT GRCh37
NC_000004.10:g.110992516_110992517delinsAT NCBI36
NG_033249.1:g.8728_8729delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_198506.5:c.524_525delinsAT MANE Select NP_940908.3:p.Ser175Asn
ENST00000594814.6:c.524_525delinsAT MANE Select ENSP00000469759.1:p.Ser175Asn
NM_198506.4:c.524_525delinsAT NP_940908.3:p.Ser175Asn
ENST00000327908.3:c.-183_-182delinsAT ENSP00000328222.3:n.-183_-182delinsAT
ENST00000594814.5:c.524_525delinsAT ENSP00000469759.1:p.Ser175Asn
XM_005262979.2:c.-183_-182delinsAT XP_005263036.1:n.-183_-182delinsAT
XM_017008168.1:c.524_525delinsAT XP_016863657.1:p.Ser175Asn
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