Canonical Allele Identifier: CA2519626484

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763850_57763851insGCC , CM000674.2:g.57763850_57763851insGCC	GRCh38
NC_000012.11:g.58157633_58157634insGCC , CM000674.1:g.58157633_58157634insGCC	GRCh37
NC_000012.10:g.56443900_56443901insGCC	NCBI36
NG_007076.1:g.8343_8344insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-43_1297-42insGGC	ENSP00000518840.1:n.1297-43_1297-42insGGC
ENST00000713545.1:c.*221-43_*221-42insGGC	ENSP00000518841.1:n.*221-43_*221-42insGGC
ENST00000228606.9:c.1216-43_1216-42insGGC MANE Select	ENSP00000228606.4:n.1216-43_1216-42insGGC
ENST00000228606.8:c.1216-43_1216-42insGGC	ENSP00000228606.4:n.1216-43_1216-42insGGC
ENST00000547344.5:n.1355-43_1355-42insGGC
NM_000785.3:c.1216-43_1216-42insGGC	NP_000776.1:n.1216-43_1216-42insGGC
NM_000785.4:c.1216-43_1216-42insGGC MANE Select	NP_000776.1:n.1216-43_1216-42insGGC