Canonical Allele Identifier: CA2517533387
Gene: HSD11B1 HGNC NCBI
HSD11B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209711928_209711930del , CM000663.2:g.209711928_209711930del GRCh38
NC_000001.10:g.209885273_209885275del , CM000663.1:g.209885273_209885275del GRCh37
NC_000001.9:g.207951896_207951898del NCBI36
NG_012081.1:g.30724_30726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367027.5:c.517+4800_517+4802del (HSD11B1) MANE Select ENSP00000355994.3:n.517+4800_517+4802del
ENST00000261465.5:c.517+4800_517+4802del (HSD11B1) ENSP00000261465.2:n.517+4800_517+4802del
ENST00000367027.4:c.517+4800_517+4802del (HSD11B1) ENSP00000355994.3:n.517+4800_517+4802del
ENST00000367028.6:c.517+4800_517+4802del (HSD11B1) ENSP00000355995.1:n.517+4800_517+4802del
ENST00000615289.4:c.517+4800_517+4802del (HSD11B1) ENSP00000478430.1:n.517+4800_517+4802del
NM_001206741.1:c.517+4800_517+4802del (HSD11B1) NP_001193670.1:n.517+4800_517+4802del
NM_005525.3:c.517+4800_517+4802del (HSD11B1) NP_005516.1:n.517+4800_517+4802del
NM_181755.2:c.517+4800_517+4802del (HSD11B1) NP_861420.1:n.517+4800_517+4802del
XR_922542.1:n.3234+12101_3234+12103del (HSD11B1-AS1)
XR_922543.1:n.3225+12101_3225+12103del (HSD11B1-AS1)
XR_922547.1:n.3090+30568_3090+30570del (HSD11B1-AS1)
XR_922549.1:n.124+45547_124+45549del (HSD11B1-AS1)
NR_134509.1:n.96+12101_96+12103del (HSD11B1-AS1)
NR_134510.1:n.66+30568_66+30570del (HSD11B1-AS1)
NM_005525.4:c.517+4800_517+4802del (HSD11B1) MANE Select NP_005516.1:n.517+4800_517+4802del
NM_001206741.2:c.517+4800_517+4802del (HSD11B1) NP_001193670.1:n.517+4800_517+4802del
NM_181755.3:c.517+4800_517+4802del (HSD11B1) NP_861420.1:n.517+4800_517+4802del