Canonical Allele Identifier: CA1327644307

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033766T= , CM000664.2:g.216033766T= GRCh38
NC_000002.11:g.216898489T= , CM000664.1:g.216898489T= GRCh37
NC_000002.10:g.216606734T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+196A= (MREG) ENSP00000413302.1:n.-68+196A=
ENST00000439791.5:c.-151A= (MREG) ENSP00000411076.1:n.-151A=
ENST00000442122.5:c.*440+5425A= (PECR) ENSP00000395512.1:n.*440+5425A=
XR_001738847.2:n.1056-914A= (PECR)
NM_001372189.1:c.-68+196A= (MREG) NP_001359118.1:n.-68+196A=
NM_001372190.1:c.-151A= (MREG) NP_001359119.1:n.-151A=