Canonical Allele Identifier: CA2038991060

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766214_57766223delinsAGCGGACACT , CM000674.2:g.57766214_57766223delinsAGCGGACACT	GRCh38
NC_000012.11:g.58159997_58160006delinsAGCGGACACT , CM000674.1:g.58159997_58160006delinsAGCGGACACT	GRCh37
NC_000012.10:g.56446264_56446273delinsAGCGGACACT	NCBI36
NG_007076.1:g.5971_5980delinsAGTGTCCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-26_108-17delinsAGTGTCCGCT
ENST00000713544.1:c.196-26_196-17delinsAGTGTCCGCT	ENSP00000518840.1:n.196-26_196-17delinsAGTGTCCGCT
ENST00000713545.1:c.196-26_196-17delinsAGTGTCCGCT	ENSP00000518841.1:n.196-26_196-17delinsAGTGTCCGCT
ENST00000228606.9:c.196-26_196-17delinsAGTGTCCGCT MANE Select	ENSP00000228606.4:n.196-26_196-17delinsAGTGTCCGCT
ENST00000228606.8:c.196-26_196-17delinsAGTGTCCGCT	ENSP00000228606.4:n.196-26_196-17delinsAGTGTCCGCT
ENST00000546496.1:n.24-26_24-17delinsAGTGTCCGCT
ENST00000546609.1:c.108-26_108-17delinsAGTGTCCGCT
ENST00000547344.5:n.250-26_250-17delinsAGTGTCCGCT
ENST00000552186.1:n.289_298delinsAGTGTCCGCT
NM_000785.3:c.196-26_196-17delinsAGTGTCCGCT	NP_000776.1:n.196-26_196-17delinsAGTGTCCGCT
NM_000785.4:c.196-26_196-17delinsAGTGTCCGCT MANE Select	NP_000776.1:n.196-26_196-17delinsAGTGTCCGCT