Canonical Allele Identifier: CA1327642339

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028998A= , CM000664.2:g.216028998A= GRCh38
NC_000002.11:g.216893721A= , CM000664.1:g.216893721A= GRCh37
NC_000002.10:g.216601966A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3791T= (MREG) ENSP00000404470.1:n.-68+3791T=
ENST00000424992.5:c.-68+4964T= (MREG) ENSP00000413302.1:n.-68+4964T=
ENST00000439791.5:c.-68+4685T= (MREG) ENSP00000411076.1:n.-68+4685T=
ENST00000442122.5:c.*440+10193T= (PECR) ENSP00000395512.1:n.*440+10193T=
NM_001372189.1:c.-68+4964T= (MREG) NP_001359118.1:n.-68+4964T=
NM_001372190.1:c.-68+4685T= (MREG) NP_001359119.1:n.-68+4685T=