Canonical Allele Identifier: CA2586963974
Community Standard Title: NM_005525.4(HSD11B1):c.678_679insT (p.Val227CysfsTer?)
Gene: HSD11B1 HGNC NCBI
HSD11B1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209734320_209734321insT , CM000663.2:g.209734320_209734321insT GRCh38
NC_000001.10:g.209907665_209907666insT , CM000663.1:g.209907665_209907666insT GRCh37
NC_000001.9:g.207974288_207974289insT NCBI36
NG_012081.1:g.53116_53117insT

Transcript Alleles

HGVS Amino-acid Change
NM_005525.4:c.678_679insT (HSD11B1) MANE Select NP_005516.1:p.Val227CysfsTer?
ENST00000367027.5:c.678_679insT (HSD11B1) MANE Select ENSP00000355994.3:p.Val227CysfsTer?
NM_001206741.1:c.678_679insT (HSD11B1) NP_001193670.1:p.Val227CysfsTer?
NM_001206741.2:c.678_679insT (HSD11B1) NP_001193670.1:p.Val227CysfsTer?
NM_005525.3:c.678_679insT (HSD11B1) NP_005516.1:p.Val227CysfsTer?
NM_181755.2:c.678_679insT (HSD11B1) NP_861420.1:p.Val227CysfsTer?
NM_181755.3:c.678_679insT (HSD11B1) NP_861420.1:p.Val227CysfsTer?
NR_134510.1:n.66+8176_66+8177insA (HSD11B1-AS1)
ENST00000261465.5:c.678_679insT (HSD11B1) ENSP00000261465.2:p.Val227CysfsTer?
ENST00000367027.4:c.678_679insT (HSD11B1) ENSP00000355994.3:p.Val227CysfsTer?
ENST00000367028.6:c.678_679insT (HSD11B1) ENSP00000355995.1:p.Val227CysfsTer?
XR_922542.1:n.3119+8176_3119+8177insA (HSD11B1-AS1)
XR_922543.1:n.3110+8176_3110+8177insA (HSD11B1-AS1)
XR_922547.1:n.3090+8176_3090+8177insA (HSD11B1-AS1)
XR_922549.1:n.124+23155_124+23156insA (HSD11B1-AS1)
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