Canonical Allele Identifier: CA2559921141

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763859_57763861del , CM000674.2:g.57763859_57763861del	GRCh38
NC_000012.11:g.58157642_58157644del , CM000674.1:g.58157642_58157644del	GRCh37
NC_000012.10:g.56443909_56443911del	NCBI36
NG_007076.1:g.8333_8335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1297-53_1297-51del	ENSP00000518840.1:n.1297-53_1297-51del
ENST00000713545.1:c.*221-53_*221-51del	ENSP00000518841.1:n.*221-53_*221-51del
ENST00000228606.9:c.1216-53_1216-51del MANE Select	ENSP00000228606.4:n.1216-53_1216-51del
ENST00000228606.8:c.1216-53_1216-51del	ENSP00000228606.4:n.1216-53_1216-51del
ENST00000547344.5:n.1355-53_1355-51del
NM_000785.3:c.1216-53_1216-51del	NP_000776.1:n.1216-53_1216-51del
NM_000785.4:c.1216-53_1216-51del MANE Select	NP_000776.1:n.1216-53_1216-51del