Canonical Allele Identifier: CA1327644296

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033747C= , CM000664.2:g.216033747C= GRCh38
NC_000002.11:g.216898470C= , CM000664.1:g.216898470C= GRCh37
NC_000002.10:g.216606715C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+215G= (MREG) ENSP00000413302.1:n.-68+215G=
ENST00000439791.5:c.-132G= (MREG) ENSP00000411076.1:n.-132G=
ENST00000442122.5:c.*440+5444G= (PECR) ENSP00000395512.1:n.*440+5444G=
XR_001738847.2:n.1056-895G= (PECR)
NM_001372189.1:c.-68+215G= (MREG) NP_001359118.1:n.-68+215G=
NM_001372190.1:c.-132G= (MREG) NP_001359119.1:n.-132G=