Canonical Allele Identifier: CA2619518073

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57765685-C-CCTGTCTTCCAGCCCCCTTCCTCTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765687_57765688insGTCTTCCAGCCCCCTTCCTCTTTACT , CM000674.2:g.57765687_57765688insGTCTTCCAGCCCCCTTCCTCTTTACT	GRCh38
NC_000012.11:g.58159470_58159471insGTCTTCCAGCCCCCTTCCTCTTTACT , CM000674.1:g.58159470_58159471insGTCTTCCAGCCCCCTTCCTCTTTACT	GRCh37
NC_000012.10:g.56445737_56445738insGTCTTCCAGCCCCCTTCCTCTTTACT	NCBI36
NG_007076.1:g.6508_6509insTAAAGAGGAAGGGGGCTGGAAGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.299-187_299-186insTAAAGAGGAAGGGGGCTGGAAGACAG
ENST00000713544.1:c.387-106_387-105insTAAAGAGGAAGGGGGCTGGAAGACAG	ENSP00000518840.1:n.387-106_387-105insTAAAGAGGAAGGGGGCTGGAAGA...
ENST00000713545.1:c.387-129_387-128insTAAAGAGGAAGGGGGCTGGAAGACAG	ENSP00000518841.1:n.387-129_387-128insTAAAGAGGAAGGGGGCTGGAAGA...
ENST00000228606.9:c.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGACAG MANE Select	ENSP00000228606.4:n.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGA...
ENST00000228606.8:c.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGACAG	ENSP00000228606.4:n.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGA...
ENST00000546496.1:n.215-187_215-186insTAAAGAGGAAGGGGGCTGGAAGACAG
ENST00000546609.1:c.299-187_299-186insTAAAGAGGAAGGGGGCTGGAAGACAG
ENST00000547344.5:n.441-187_441-186insTAAAGAGGAAGGGGGCTGGAAGACAG
ENST00000552186.1:n.506-187_506-186insTAAAGAGGAAGGGGGCTGGAAGACAG
NM_000785.3:c.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGACAG	NP_000776.1:n.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGACAG
NM_000785.4:c.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGACAG MANE Select	NP_000776.1:n.387-187_387-186insTAAAGAGGAAGGGGGCTGGAAGACAG