Canonical Allele Identifier: CA1327642253

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028792T= , CM000664.2:g.216028792T= GRCh38
NC_000002.11:g.216893515T= , CM000664.1:g.216893515T= GRCh37
NC_000002.10:g.216601760T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3997A= (MREG) ENSP00000404470.1:n.-68+3997A=
ENST00000424992.5:c.-68+5170A= (MREG) ENSP00000413302.1:n.-68+5170A=
ENST00000439791.5:c.-68+4891A= (MREG) ENSP00000411076.1:n.-68+4891A=
ENST00000442122.5:c.*440+10399A= (PECR) ENSP00000395512.1:n.*440+10399A=
NM_001372189.1:c.-68+5170A= (MREG) NP_001359118.1:n.-68+5170A=
NM_001372190.1:c.-68+4891A= (MREG) NP_001359119.1:n.-68+4891A=