Canonical Allele Identifier: CA2619515532

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57764232-C-CTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764232_57764233insTAG , CM000674.2:g.57764232_57764233insTAG	GRCh38
NC_000012.11:g.58158015_58158016insTAG , CM000674.1:g.58158015_58158016insTAG	GRCh37
NC_000012.10:g.56444282_56444283insTAG	NCBI36
NG_007076.1:g.7961_7962insCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1218-57_1218-56insCTA	ENSP00000518840.1:n.1218-57_1218-56insCTA
ENST00000713545.1:c.*142-57_*142-56insCTA	ENSP00000518841.1:n.*142-57_*142-56insCTA
ENST00000228606.9:c.1137-57_1137-56insCTA MANE Select	ENSP00000228606.4:n.1137-57_1137-56insCTA
ENST00000228606.8:c.1137-57_1137-56insCTA	ENSP00000228606.4:n.1137-57_1137-56insCTA
ENST00000546567.5:c.432-57_432-56insCTA	ENSP00000449472.1:n.432-57_432-56insCTA
ENST00000547344.5:n.1276-57_1276-56insCTA
NM_000785.3:c.1137-57_1137-56insCTA	NP_000776.1:n.1137-57_1137-56insCTA
NM_000785.4:c.1137-57_1137-56insCTA MANE Select	NP_000776.1:n.1137-57_1137-56insCTA