Canonical Allele Identifier: CA2634887937

Gene: GALNS

Linked Data

• gnomAD v4: 16-88817972-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88817973_88817974del , CM000678.2:g.88817973_88817974del	GRCh38
NC_000016.9:g.88884381_88884382del , CM000678.1:g.88884381_88884382del	GRCh37
NC_000016.8:g.87411882_87411883del	NCBI36
NG_008667.1:g.43993_43994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1482+33_1482+34del MANE Select	ENSP00000268695.5:n.1482+33_1482+34del
ENST00000268695.9:c.1482+33_1482+34del	ENSP00000268695.5:n.1482+33_1482+34del
ENST00000562593.5:n.4891+33_4891+34del
ENST00000567525.5:c.1163+33_1163+34del	ENSP00000454484.1:n.1163+33_1163+34del
ENST00000568613.5:c.1601+33_1601+34del	ENSP00000457921.1:n.1601+33_1601+34del
NM_000512.4:c.1482+33_1482+34del	NP_000503.1:n.1482+33_1482+34del
XM_005256301.2:c.1482+33_1482+34del	XP_005256358.1:n.1482+33_1482+34del
XM_005256302.1:c.1500+33_1500+34del	XP_005256359.1:n.1500+33_1500+34del
XM_011522982.1:c.1500+33_1500+34del	XP_011521284.1:n.1500+33_1500+34del
XM_011522984.1:c.1500+33_1500+34del	XP_011521286.1:n.1500+33_1500+34del
NM_001323543.1:c.927+33_927+34del	NP_001310472.1:n.927+33_927+34del
NM_001323544.1:c.1500+33_1500+34del	NP_001310473.1:n.1500+33_1500+34del
XM_005256301.3:c.1482+33_1482+34del	XP_005256358.1:n.1482+33_1482+34del
XM_011522982.2:c.1500+33_1500+34del	XP_011521284.1:n.1500+33_1500+34del
XM_017023111.2:c.1500+33_1500+34del	XP_016878600.1:n.1500+33_1500+34del
XM_017023112.2:c.1500+33_1500+34del	XP_016878601.1:n.1500+33_1500+34del
XM_017023113.1:c.927+33_927+34del	XP_016878602.1:n.927+33_927+34del
NM_000512.5:c.1482+33_1482+34del MANE Select	NP_000503.1:n.1482+33_1482+34del
NM_001323543.2:c.927+33_927+34del	NP_001310472.1:n.927+33_927+34del
NM_001323544.2:c.1500+33_1500+34del	NP_001310473.1:n.1500+33_1500+34del