Canonical Allele Identifier: CA2500088017
Gene: HSD11B1 HGNC NCBI
HSD11B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209711920_209711921insTTTT , CM000663.2:g.209711920_209711921insTTTT GRCh38
NC_000001.10:g.209885265_209885266insTTTT , CM000663.1:g.209885265_209885266insTTTT GRCh37
NC_000001.9:g.207951888_207951889insTTTT NCBI36
NG_012081.1:g.30716_30717insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367027.5:c.517+4792_517+4793insTTTT (HSD11B1) MANE Select ENSP00000355994.3:n.517+4792_517+4793insTTTT
ENST00000261465.5:c.517+4792_517+4793insTTTT (HSD11B1) ENSP00000261465.2:n.517+4792_517+4793insTTTT
ENST00000367027.4:c.517+4792_517+4793insTTTT (HSD11B1) ENSP00000355994.3:n.517+4792_517+4793insTTTT
ENST00000367028.6:c.517+4792_517+4793insTTTT (HSD11B1) ENSP00000355995.1:n.517+4792_517+4793insTTTT
ENST00000615289.4:c.517+4792_517+4793insTTTT (HSD11B1) ENSP00000478430.1:n.517+4792_517+4793insTTTT
NM_001206741.1:c.517+4792_517+4793insTTTT (HSD11B1) NP_001193670.1:n.517+4792_517+4793insTTTT
NM_005525.3:c.517+4792_517+4793insTTTT (HSD11B1) NP_005516.1:n.517+4792_517+4793insTTTT
NM_181755.2:c.517+4792_517+4793insTTTT (HSD11B1) NP_861420.1:n.517+4792_517+4793insTTTT
XR_922542.1:n.3234+12109_3234+12110insAAAA (HSD11B1-AS1)
XR_922543.1:n.3225+12109_3225+12110insAAAA (HSD11B1-AS1)
XR_922547.1:n.3090+30576_3090+30577insAAAA (HSD11B1-AS1)
XR_922549.1:n.124+45555_124+45556insAAAA (HSD11B1-AS1)
NR_134509.1:n.96+12109_96+12110insAAAA (HSD11B1-AS1)
NR_134510.1:n.66+30576_66+30577insAAAA (HSD11B1-AS1)
NM_005525.4:c.517+4792_517+4793insTTTT (HSD11B1) MANE Select NP_005516.1:n.517+4792_517+4793insTTTT
NM_001206741.2:c.517+4792_517+4793insTTTT (HSD11B1) NP_001193670.1:n.517+4792_517+4793insTTTT
NM_181755.3:c.517+4792_517+4793insTTTT (HSD11B1) NP_861420.1:n.517+4792_517+4793insTTTT