Canonical Allele Identifier: CA743875001

Gene: GSS

Linked Data

• dbSNP Id: rs1177999996
• gnomAD v3: 20-34935305-ATTG-A
• gnomAD v4: 20-34935305-ATTG-A
• MyVariant Identifiers: chr20:g.33523109_33523111del (hg19) ; chr20:g.34935306_34935308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935311_34935313del , CM000682.2:g.34935311_34935313del	GRCh38
NC_000020.10:g.33523114_33523116del , CM000682.1:g.33523114_33523116del	GRCh37
NC_000020.9:g.32986775_32986777del	NCBI36
NG_008848.1:g.25491_25493del
NG_008848.2:g.25720_25722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1455_*474+1457del	ENSP00000493524.1:n.*474+1455_*474+1457del
ENST00000642498.1:c.834+268_834+270del	ENSP00000493631.1:n.834+268_834+270del
ENST00000642538.1:c.*178+268_*178+270del	ENSP00000493927.1:n.*178+268_*178+270del
ENST00000643188.1:c.834+268_834+270del	ENSP00000493903.1:n.834+268_834+270del
ENST00000643443.1:c.*541+268_*541+270del	ENSP00000495572.1:n.*541+268_*541+270del
ENST00000643502.1:c.491+268_491+270del
ENST00000643908.1:n.1052+1635_1052+1637del
ENST00000644538.1:n.1111+268_1111+270del
ENST00000644793.1:c.834+268_834+270del	ENSP00000495750.1:n.834+268_834+270del
ENST00000645328.1:c.212+268_212+270del
ENST00000645408.1:c.367+1455_367+1457del
ENST00000645723.1:n.2073+268_2073+270del
ENST00000646405.1:c.*252+1455_*252+1457del	ENSP00000493744.1:n.*252+1455_*252+1457del
ENST00000646497.1:n.779+268_779+270del
ENST00000646502.1:n.1316+268_1316+270del
ENST00000646512.1:n.980+1455_980+1457del
ENST00000646735.1:c.501+268_501+270del	ENSP00000493763.1:n.501+268_501+270del
ENST00000651619.1:c.834+268_834+270del MANE Select	ENSP00000498303.1:n.834+268_834+270del
ENST00000216951.6:c.834+268_834+270del	ENSP00000216951.2:n.834+268_834+270del
ENST00000451957.2:c.501+268_501+270del	ENSP00000407517.2:n.501+268_501+270del
NM_000178.2:c.834+268_834+270del	NP_000169.1:n.834+268_834+270del
XM_005260406.3:c.834+268_834+270del	XP_005260463.1:n.834+268_834+270del
XM_011528796.1:c.834+268_834+270del	XP_011527098.1:n.834+268_834+270del
NM_000178.4:c.834+268_834+270del MANE Select	NP_000169.1:n.834+268_834+270del
NM_001322494.1:c.834+268_834+270del	NP_001309423.1:n.834+268_834+270del
NM_001322495.1:c.834+268_834+270del	NP_001309424.1:n.834+268_834+270del