Canonical Allele Identifier: CA2635890933

Gene: SHBG

Linked Data

• gnomAD v4: 17-7631344-TCCAACCTTCGGTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7631347_7631360del , CM000679.2:g.7631347_7631360del	GRCh38
NC_000017.10:g.7534665_7534678del , CM000679.1:g.7534665_7534678del	GRCh37
NC_000017.9:g.7475390_7475403del	NCBI36
NG_011981.2:g.22284_22297del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380450.9:c.541_554del MANE Select	ENSP00000369816.4:p.Asn181AlafsTer28
ENST00000340624.9:c.367_380del	ENSP00000345675.6:p.Asn123AlafsTer28
ENST00000380450.8:c.541_554del	ENSP00000369816.4:p.Asn181AlafsTer28
ENST00000416273.7:c.541_554del	ENSP00000388867.3:p.Asn181AlafsTer28
ENST00000441599.6:c.541_554del	ENSP00000393426.2:p.Asn181AlafsTer28
ENST00000570353.5:c.449_462del	ENSP00000458199.1:p.Gln150ArgfsTer?
ENST00000570527.5:c.*499_*512del	ENSP00000461162.1:n.*499_*512del
ENST00000570547.5:c.367_380del	ENSP00000458875.1:p.Asn123AlafsTer28
ENST00000571153.5:c.313-242_313-229del	ENSP00000458858.1:n.313-242_313-229del
ENST00000572182.5:c.219+478_219+491del	ENSP00000458816.1:n.219+478_219+491del
ENST00000572262.5:c.220-242_220-229del	ENSP00000459999.1:n.220-242_220-229del
ENST00000574539.5:c.367_380del	ENSP00000458181.1:p.Asn123AlafsTer28
ENST00000575314.5:c.367_380del	ENSP00000458559.1:p.Asn123AlafsTer28
ENST00000575618.5:c.312+478_312+491del	ENSP00000459826.1:n.312+478_312+491del
ENST00000575903.5:c.541_554del	ENSP00000458973.1:p.Asn181GlyfsTer10
ENST00000576152.1:c.313-242_313-229del	ENSP00000461743.1:n.313-242_313-229del
ENST00000576478.5:c.220-242_220-229del	ENSP00000461133.1:n.220-242_220-229del
ENST00000576728.5:c.220-242_220-229del	ENSP00000459620.1:n.220-242_220-229del
ENST00000576747.1:n.39_52del
ENST00000576830.5:c.460_473del	ENSP00000460219.1:p.Asn154AlafsTer28
NM_001040.4:c.541_554del	NP_001031.2:p.Asn181AlafsTer28
NM_001146279.2:c.541_554del	NP_001139751.1:p.Asn181GlyfsTer10
NM_001146280.2:c.541_554del	NP_001139752.1:p.Asn181AlafsTer28
NM_001146281.2:c.541_554del	NP_001139753.1:p.Asn181AlafsTer28
NM_001289113.1:c.367_380del	NP_001276042.1:p.Asn123AlafsTer28
NM_001289114.1:c.367_380del	NP_001276043.1:p.Asn123AlafsTer28
NM_001289115.1:c.367_380del	NP_001276044.1:p.Asn123AlafsTer28
NM_001289116.1:c.193_206del	NP_001276045.1:p.Asn65AlafsTer28
XM_011523991.1:c.541_554del	XP_011522293.1:p.Asn181AlafsTer28
NM_001040.5:c.541_554del MANE Select	NP_001031.2:p.Asn181AlafsTer28
NM_001146279.3:c.541_554del	NP_001139751.1:p.Asn181GlyfsTer10
NM_001146280.3:c.541_554del	NP_001139752.1:p.Asn181AlafsTer28
NM_001289116.2:c.193_206del	NP_001276045.1:p.Asn65AlafsTer28
NM_001146281.3:c.541_554del	NP_001139753.1:p.Asn181AlafsTer28
NM_001289113.2:c.367_380del	NP_001276042.1:p.Asn123AlafsTer28
NM_001289114.2:c.367_380del	NP_001276043.1:p.Asn123AlafsTer28
NM_001289115.2:c.367_380del	NP_001276044.1:p.Asn123AlafsTer28