Canonical Allele Identifier: CA14963491
Community Standard Title: NC_000022.11:g.17629087C>A
Gene: BCL2L13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.17629087C>A , CM000684.2:g.17629087C>A GRCh38
NC_000022.10:g.18111853C>A , CM000684.1:g.18111853C>A GRCh37
NC_000022.9:g.16491853C>A NCBI36
NG_009214.1:g.4736G>T
NG_009214.2:g.4736G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399781.5:n.52+181C>A
ENST00000399782.5:c.-650+82C>A ENSP00000382682.1:n.-650+82C>A
XM_011546119.1:c.-593+181C>A XP_011544421.1:n.-593+181C>A
XM_011546120.1:c.-593+153C>A XP_011544422.1:n.-593+153C>A
XM_011546121.2:c.-650+181C>A XP_011544423.1:n.-650+181C>A
XM_017028725.1:c.-593+181C>A XP_016884214.1:n.-593+181C>A
XM_017028726.1:c.-1248+181C>A XP_016884215.1:n.-1248+181C>A
XM_017028728.1:c.-1165+181C>A XP_016884217.1:n.-1165+181C>A
XM_017028731.1:c.-994+181C>A XP_016884220.1:n.-994+181C>A
XM_017028734.1:c.-836+181C>A XP_016884223.1:n.-836+181C>A
XR_001755196.1:n.52+181C>A