Canonical Allele Identifier: CA2632803971

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30986764-TGCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986768_30986771del , CM000678.2:g.30986768_30986771del	GRCh38
NC_000016.9:g.30998089_30998092del , CM000678.1:g.30998089_30998092del	GRCh37
NC_000016.8:g.30905590_30905593del	NCBI36
NG_012346.1:g.6571_6574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.531+64_531+67del MANE Select	ENSP00000297679.5:n.531+64_531+67del
ENST00000262520.10:c.531+64_531+67del	ENSP00000262520.6:n.531+64_531+67del
ENST00000297679.9:c.531+64_531+67del	ENSP00000297679.5:n.531+64_531+67del
NM_001142777.1:c.531+64_531+67del	NP_001136249.1:n.531+64_531+67del
NM_001142778.1:c.531+64_531+67del	NP_001136250.1:n.531+64_531+67del
NM_025193.3:c.531+64_531+67del	NP_079469.2:n.531+64_531+67del
XM_005255601.3:c.531+64_531+67del	XP_005255658.2:n.531+64_531+67del
XM_011545960.1:c.531+64_531+67del	XP_011544262.1:n.531+64_531+67del
XM_011545961.1:c.531+64_531+67del	XP_011544263.1:n.531+64_531+67del
XM_011545962.1:c.531+64_531+67del	XP_011544264.1:n.531+64_531+67del
XM_011545960.2:c.531+64_531+67del	XP_011544262.1:n.531+64_531+67del
XM_011545962.2:c.531+64_531+67del	XP_011544264.1:n.531+64_531+67del
XM_017023732.1:c.531+64_531+67del	XP_016879221.1:n.531+64_531+67del
NM_025193.4:c.531+64_531+67del MANE Select	NP_079469.2:n.531+64_531+67del
NM_001142777.2:c.531+64_531+67del	NP_001136249.1:n.531+64_531+67del
NM_001142778.2:c.531+64_531+67del	NP_001136250.1:n.531+64_531+67del