Canonical Allele Identifier: CA2632803941

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30986700-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986702_30986704del , CM000678.2:g.30986702_30986704del	GRCh38
NC_000016.9:g.30998023_30998025del , CM000678.1:g.30998023_30998025del	GRCh37
NC_000016.8:g.30905524_30905526del	NCBI36
NG_012346.1:g.6505_6507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.529_531del MANE Select	ENSP00000297679.5:p.Lys177del
ENST00000262520.10:c.529_531del	ENSP00000262520.6:p.Lys177del
ENST00000297679.9:c.529_531del	ENSP00000297679.5:p.Lys177del
ENST00000562932.5:c.652_654del	ENSP00000459852.1:p.Lys218del
NM_001142777.1:c.529_531del	NP_001136249.1:p.Lys177del
NM_001142778.1:c.529_531del	NP_001136250.1:p.Lys177del
NM_025193.3:c.529_531del	NP_079469.2:p.Lys177del
XM_005255601.3:c.529_531del	XP_005255658.2:p.Lys177del
XM_011545960.1:c.529_531del	XP_011544262.1:p.Lys177del
XM_011545961.1:c.529_531del	XP_011544263.1:p.Lys177del
XM_011545962.1:c.529_531del	XP_011544264.1:p.Lys177del
XM_011545960.2:c.529_531del	XP_011544262.1:p.Lys177del
XM_011545962.2:c.529_531del	XP_011544264.1:p.Lys177del
XM_017023732.1:c.529_531del	XP_016879221.1:p.Lys177del
NM_025193.4:c.529_531del MANE Select	NP_079469.2:p.Lys177del
NM_001142777.2:c.529_531del	NP_001136249.1:p.Lys177del
NM_001142778.2:c.529_531del	NP_001136250.1:p.Lys177del