Canonical Allele Identifier: CA730843325
Gene: HSD11B1 HGNC NCBI
HSD11B1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1249544561
gnomAD v3: 1-209711895-TG-T
gnomAD v4: 1-209711895-TG-T
MyVariant Identifiers: chr1:g.209885241del (hg19) chr1:g.209711896del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209711896del , CM000663.2:g.209711896del GRCh38
NC_000001.10:g.209885241del , CM000663.1:g.209885241del GRCh37
NC_000001.9:g.207951864del NCBI36
NG_012081.1:g.30692del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367027.5:c.517+4768del (HSD11B1) MANE Select ENSP00000355994.3:n.517+4768del
ENST00000261465.5:c.517+4768del (HSD11B1) ENSP00000261465.2:n.517+4768del
ENST00000367027.4:c.517+4768del (HSD11B1) ENSP00000355994.3:n.517+4768del
ENST00000367028.6:c.517+4768del (HSD11B1) ENSP00000355995.1:n.517+4768del
ENST00000615289.4:c.517+4768del (HSD11B1) ENSP00000478430.1:n.517+4768del
NM_001206741.1:c.517+4768del (HSD11B1) NP_001193670.1:n.517+4768del
NM_005525.3:c.517+4768del (HSD11B1) NP_005516.1:n.517+4768del
NM_181755.2:c.517+4768del (HSD11B1) NP_861420.1:n.517+4768del
XR_922542.1:n.3234+12134del (HSD11B1-AS1)
XR_922543.1:n.3225+12134del (HSD11B1-AS1)
XR_922547.1:n.3090+30601del (HSD11B1-AS1)
XR_922549.1:n.124+45580del (HSD11B1-AS1)
NR_134509.1:n.96+12134del (HSD11B1-AS1)
NR_134510.1:n.66+30601del (HSD11B1-AS1)
NM_005525.4:c.517+4768del (HSD11B1) MANE Select NP_005516.1:n.517+4768del
NM_001206741.2:c.517+4768del (HSD11B1) NP_001193670.1:n.517+4768del
NM_181755.3:c.517+4768del (HSD11B1) NP_861420.1:n.517+4768del
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