Canonical Allele Identifier: CA917294031
Gene: BBS12 HGNC NCBI

Linked Data

dbSNP Id: rs1560707628

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742983_122742984del , CM000666.2:g.122742983_122742984del GRCh38
NC_000004.11:g.123664138_123664139del , CM000666.1:g.123664138_123664139del GRCh37
NC_000004.10:g.123883588_123883589del NCBI36
NG_021203.1:g.15282_15283del

Transcript Alleles

HGVS Amino-acid change
ENST00000314218.8:c.1091_1092del MANE Select ENSP00000319062.3:p.Thr364ArgfsTer9
ENST00000314218.7:c.1091_1092del ENSP00000319062.3:p.Thr364ArgfsTer9
ENST00000542236.5:c.1091_1092del ENSP00000438273.1:p.Thr364ArgfsTer9
NM_001178007.1:c.1091_1092del NP_001171478.1:p.Thr364ArgfsTer9
NM_152618.2:c.1091_1092del NP_689831.2:p.Thr364ArgfsTer9
XM_011531680.1:c.1091_1092del XP_011529982.1:p.Thr364ArgfsTer9
XM_011531680.2:c.1091_1092del XP_011529982.1:p.Thr364ArgfsTer9
XM_017007831.1:c.1091_1092del XP_016863320.1:p.Thr364ArgfsTer9
NM_152618.3:c.1091_1092del MANE Select NP_689831.2:p.Thr364ArgfsTer9
NM_001178007.2:c.1091_1092del NP_001171478.1:p.Thr364ArgfsTer9