Canonical Allele Identifier: CA1789659740

Gene: CYP7B1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604835_64604836delinsTA , CM000670.2:g.64604835_64604836delinsTA	GRCh38
NC_000008.10:g.65517392_65517393delinsTA , CM000670.1:g.65517392_65517393delinsTA	GRCh37
NC_000008.9:g.65679946_65679947delinsTA	NCBI36
NG_008338.1:g.198956_198957delinsTA
NG_008338.2:g.198956_198957delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1079_1080delinsTA MANE Select	ENSP00000310721.3:p.Leu360=
ENST00000310193.3:c.1079_1080delinsTA	ENSP00000310721.3:p.Leu360=
ENST00000523954.1:n.353_354delinsTA
NM_004820.3:c.1079_1080delinsTA	NP_004811.1:p.Leu360=
NM_001324112.1:c.1079_1080delinsTA	NP_001311041.1:p.Leu360=
NM_004820.4:c.1079_1080delinsTA	NP_004811.1:p.Leu360=
XM_017014002.1:c.1145_1146delinsTA	XP_016869491.1:p.Leu382=
NM_004820.5:c.1079_1080delinsTA MANE Select	NP_004811.1:p.Leu360=
NM_001324112.2:c.1079_1080delinsTA	NP_001311041.1:p.Leu360=