Canonical Allele Identifier: CA2216825489

Gene: HSD3B7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987961_30987962delinsGT , CM000678.2:g.30987961_30987962delinsGT	GRCh38
NC_000016.9:g.30999282_30999283delinsGT , CM000678.1:g.30999282_30999283delinsGT	GRCh37
NC_000016.8:g.30906783_30906784delinsGT	NCBI36
NG_012346.1:g.7764_7765delinsGT
NG_041829.1:g.27547_27548delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.888_889delinsGT MANE Select	ENSP00000297679.5:p.Val296=
ENST00000262520.10:c.*134_*135delinsGT	ENSP00000262520.6:n.*134_*135delinsGT
ENST00000297679.9:c.888_889delinsGT	ENSP00000297679.5:p.Val296=
NM_001142777.1:c.*134_*135delinsGT	NP_001136249.1:n.*134_*135delinsGT
NM_001142778.1:c.*134_*135delinsGT	NP_001136250.1:n.*134_*135delinsGT
NM_025193.3:c.888_889delinsGT	NP_079469.2:p.Val296=
XM_005255601.3:c.888_889delinsGT	XP_005255658.2:p.Val296=
XM_011545960.1:c.888_889delinsGT	XP_011544262.1:p.Val296=
XM_011545961.1:c.888_889delinsGT	XP_011544263.1:p.Val296=
XM_011545960.2:c.888_889delinsGT	XP_011544262.1:p.Val296=
XM_011545962.2:c.*134_*135delinsGT	XP_011544264.1:n.*134_*135delinsGT
XM_017023732.1:c.*134_*135delinsGT	XP_016879221.1:n.*134_*135delinsGT
NM_025193.4:c.888_889delinsGT MANE Select	NP_079469.2:p.Val296=
NM_001142777.2:c.*134_*135delinsGT	NP_001136249.1:n.*134_*135delinsGT
NM_001142778.2:c.*134_*135delinsGT	NP_001136250.1:n.*134_*135delinsGT