Canonical Allele Identifier: CA321210297
Community Standard Title: NC_000022.11:g.17629043A>G
Gene: BCL2L13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17629043A>G , CM000684.2:g.17629043A>G GRCh38
NC_000022.10:g.18111809A>G , CM000684.1:g.18111809A>G GRCh37
NC_000022.9:g.16491809A>G NCBI36
NG_009214.1:g.4780T>C
NG_009214.2:g.4780T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399781.5:n.52+137A>G
ENST00000399782.5:c.-650+38A>G ENSP00000382682.1:n.-650+38A>G
XM_011546119.1:c.-593+137A>G XP_011544421.1:n.-593+137A>G
XM_011546120.1:c.-593+109A>G XP_011544422.1:n.-593+109A>G
XM_011546121.2:c.-650+137A>G XP_011544423.1:n.-650+137A>G
XM_017028725.1:c.-593+137A>G XP_016884214.1:n.-593+137A>G
XM_017028726.1:c.-1248+137A>G XP_016884215.1:n.-1248+137A>G
XM_017028728.1:c.-1165+137A>G XP_016884217.1:n.-1165+137A>G
XM_017028731.1:c.-994+137A>G XP_016884220.1:n.-994+137A>G
XM_017028734.1:c.-836+137A>G XP_016884223.1:n.-836+137A>G
XR_001755196.1:n.52+137A>G