Canonical Allele Identifier: CA2090933887

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50519978T>C , CM000675.2:g.50519978T>C GRCh38
NC_000013.10:g.51094114T>C , CM000675.1:g.51094114T>C GRCh37
NC_000013.9:g.49992115T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651397.1:n.2548A>G (DLEU7)
ENST00000460525.5:n.364-13216T>C (DLEU1)
ENST00000462427.1:n.253-7888T>C (DLEU1)
ENST00000463474.6:n.850-7888T>C (DLEU1)
ENST00000467721.5:n.787-7888T>C (DLEU1)
ENST00000468168.5:n.784-7888T>C (DLEU1)
ENST00000468522.5:n.804-8202T>C (DLEU1)
ENST00000469095.5:n.1183-7888T>C (DLEU1)
ENST00000470593.5:n.115-7888T>C (DLEU1)
ENST00000470726.6:n.346+86428T>C (DLEU1)
ENST00000474630.5:n.320-7888T>C (DLEU1)
ENST00000476738.5:n.640-7888T>C (DLEU1)
ENST00000479420.5:n.457+27217T>C (DLEU1)
ENST00000484869.6:n.1329+17098T>C (DLEU1)
ENST00000485007.5:n.538-7888T>C (DLEU1)
ENST00000490577.5:n.1887-7888T>C (DLEU1)
ENST00000491341.5:n.787-8202T>C (DLEU1)
ENST00000491482.5:n.233-7888T>C (DLEU1)
ENST00000491615.5:n.898-7888T>C (DLEU1)
NR_109974.1:n.786-7888T>C (DLEU1)