Canonical Allele Identifier: CA2038990946
Gene: CYP27B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766152_57766153delinsCA , CM000674.2:g.57766152_57766153delinsCA GRCh38
NC_000012.11:g.58159935_58159936delinsCA , CM000674.1:g.58159935_58159936delinsCA GRCh37
NC_000012.10:g.56446202_56446203delinsCA NCBI36
NG_007076.1:g.6041_6042delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.152_153delinsTG
ENST00000713544.1:c.240_241delinsTG ENSP00000518840.1:p.Phe80=
ENST00000713545.1:c.240_241delinsTG ENSP00000518841.1:p.Phe80=
ENST00000228606.9:c.240_241delinsTG MANE Select ENSP00000228606.4:p.Phe80=
ENST00000228606.8:c.240_241delinsTG ENSP00000228606.4:p.Phe80=
ENST00000546496.1:n.68_69delinsTG
ENST00000546609.1:c.152_153delinsTG
ENST00000547344.5:n.294_295delinsTG
ENST00000552186.1:n.359_360delinsTG
NM_000785.3:c.240_241delinsTG NP_000776.1:p.Phe80=
NM_000785.4:c.240_241delinsTG MANE Select NP_000776.1:p.Phe80=
Search 100 bp 5'
Search 100 bp 3'