Canonical Allele Identifier: CA1327644311

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033776C= , CM000664.2:g.216033776C= GRCh38
NC_000002.11:g.216898499C= , CM000664.1:g.216898499C= GRCh37
NC_000002.10:g.216606744C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+186G= (MREG) ENSP00000413302.1:n.-68+186G=
ENST00000439791.5:c.-161G= (MREG) ENSP00000411076.1:n.-161G=
ENST00000442122.5:c.*440+5415G= (PECR) ENSP00000395512.1:n.*440+5415G=
XR_001738847.2:n.1056-924G= (PECR)
NM_001372189.1:c.-68+186G= (MREG) NP_001359118.1:n.-68+186G=
NM_001372190.1:c.-161G= (MREG) NP_001359119.1:n.-161G=