Canonical Allele Identifier: CA915640141

Gene: CYP7B1

Linked Data

• gnomAD v2: 8-65536927-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624370_64624371insGG , CM000670.2:g.64624370_64624371insGG	GRCh38
NC_000008.10:g.65536927_65536928insGG , CM000670.1:g.65536927_65536928insGG	GRCh37
NC_000008.9:g.65699481_65699482insGG	NCBI36
NG_008338.1:g.179421_179422insCC
NG_008338.2:g.179421_179422insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.259+32_259+33insCC MANE Select	ENSP00000310721.3:n.259+32_259+33insCC
ENST00000310193.3:c.259+32_259+33insCC	ENSP00000310721.3:n.259+32_259+33insCC
NM_004820.3:c.259+32_259+33insCC	NP_004811.1:n.259+32_259+33insCC
NM_001324112.1:c.259+32_259+33insCC	NP_001311041.1:n.259+32_259+33insCC
NM_004820.4:c.259+32_259+33insCC	NP_004811.1:n.259+32_259+33insCC
XM_017014002.1:c.325+32_325+33insCC	XP_016869491.1:n.325+32_325+33insCC
NM_004820.5:c.259+32_259+33insCC MANE Select	NP_004811.1:n.259+32_259+33insCC
NM_001324112.2:c.259+32_259+33insCC	NP_001311041.1:n.259+32_259+33insCC