Canonical Allele Identifier: CA2514950586

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763824_57763825insACA , CM000674.2:g.57763824_57763825insACA	GRCh38
NC_000012.11:g.58157607_58157608insACA , CM000674.1:g.58157607_58157608insACA	GRCh37
NC_000012.10:g.56443874_56443875insACA	NCBI36
NG_007076.1:g.8370_8371insGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-16_1297-15insGTT	ENSP00000518840.1:n.1297-16_1297-15insGTT
ENST00000713545.1:c.*221-16_*221-15insGTT	ENSP00000518841.1:n.*221-16_*221-15insGTT
ENST00000228606.9:c.1216-16_1216-15insGTT MANE Select	ENSP00000228606.4:n.1216-16_1216-15insGTT
ENST00000228606.8:c.1216-16_1216-15insGTT	ENSP00000228606.4:n.1216-16_1216-15insGTT
ENST00000547344.5:n.1355-16_1355-15insGTT
NM_000785.3:c.1216-16_1216-15insGTT	NP_000776.1:n.1216-16_1216-15insGTT
NM_000785.4:c.1216-16_1216-15insGTT MANE Select	NP_000776.1:n.1216-16_1216-15insGTT