Canonical Allele Identifier: CA2619520679
Gene: CYP27B1 HGNC NCBI

Linked Data

gnomAD v4: 12-57766355-CCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766361_57766362del , CM000674.2:g.57766361_57766362del GRCh38
NC_000012.11:g.58160144_58160145del , CM000674.1:g.58160144_58160145del GRCh37
NC_000012.10:g.56446411_56446412del NCBI36
NG_007076.1:g.5837_5838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-160_108-159del
ENST00000713544.1:c.196-160_196-159del ENSP00000518840.1:n.196-160_196-159del
ENST00000713545.1:c.196-160_196-159del ENSP00000518841.1:n.196-160_196-159del
ENST00000228606.9:c.196-160_196-159del MANE Select ENSP00000228606.4:n.196-160_196-159del
ENST00000228606.8:c.196-160_196-159del ENSP00000228606.4:n.196-160_196-159del
ENST00000546496.1:n.23+77_23+78del
ENST00000546609.1:c.108-160_108-159del
ENST00000547344.5:n.250-160_250-159del
ENST00000552186.1:n.155_156del
NM_000785.3:c.196-160_196-159del NP_000776.1:n.196-160_196-159del
NM_000785.4:c.196-160_196-159del MANE Select NP_000776.1:n.196-160_196-159del
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