Canonical Allele Identifier: CA635323075

Gene: GSS

Linked Data

• dbSNP Id: rs1381847640
• gnomAD v2: 20-33523034-AAAGGT-A
• gnomAD v3: 20-34935231-AAAGGT-A
• gnomAD v4: 20-34935231-AAAGGT-A
• MyVariant Identifiers: chr20:g.33523035_33523039del (hg19) ; chr20:g.34935232_34935236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935235_34935239del , CM000682.2:g.34935235_34935239del	GRCh38
NC_000020.10:g.33523038_33523042del , CM000682.1:g.33523038_33523042del	GRCh37
NC_000020.9:g.32986699_32986703del	NCBI36
NG_008848.1:g.25563_25567del
NG_008848.2:g.25792_25796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1527_*474+1531del	ENSP00000493524.1:n.*474+1527_*474+1531del
ENST00000642498.1:c.834+340_834+344del	ENSP00000493631.1:n.834+340_834+344del
ENST00000642538.1:c.*178+340_*178+344del	ENSP00000493927.1:n.*178+340_*178+344del
ENST00000643188.1:c.834+340_834+344del	ENSP00000493903.1:n.834+340_834+344del
ENST00000643443.1:c.*541+340_*541+344del	ENSP00000495572.1:n.*541+340_*541+344del
ENST00000643502.1:c.491+340_491+344del
ENST00000643908.1:n.1052+1707_1052+1711del
ENST00000644538.1:n.1111+340_1111+344del
ENST00000644793.1:c.834+340_834+344del	ENSP00000495750.1:n.834+340_834+344del
ENST00000645328.1:c.212+340_212+344del
ENST00000645408.1:c.367+1527_367+1531del
ENST00000645723.1:n.2073+340_2073+344del
ENST00000646405.1:c.*252+1527_*252+1531del	ENSP00000493744.1:n.*252+1527_*252+1531del
ENST00000646497.1:n.779+340_779+344del
ENST00000646502.1:n.1316+340_1316+344del
ENST00000646512.1:n.980+1527_980+1531del
ENST00000646735.1:c.501+340_501+344del	ENSP00000493763.1:n.501+340_501+344del
ENST00000651619.1:c.834+340_834+344del MANE Select	ENSP00000498303.1:n.834+340_834+344del
ENST00000216951.6:c.834+340_834+344del	ENSP00000216951.2:n.834+340_834+344del
ENST00000451957.2:c.501+340_501+344del	ENSP00000407517.2:n.501+340_501+344del
NM_000178.2:c.834+340_834+344del	NP_000169.1:n.834+340_834+344del
XM_005260406.3:c.834+340_834+344del	XP_005260463.1:n.834+340_834+344del
XM_011528796.1:c.834+340_834+344del	XP_011527098.1:n.834+340_834+344del
NM_000178.4:c.834+340_834+344del MANE Select	NP_000169.1:n.834+340_834+344del
NM_001322494.1:c.834+340_834+344del	NP_001309423.1:n.834+340_834+344del
NM_001322495.1:c.834+340_834+344del	NP_001309424.1:n.834+340_834+344del