Canonical Allele Identifier: CA2634890805

Gene: GALNS

Linked Data

• gnomAD v4: 16-88826617-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826620del , CM000678.2:g.88826620del	GRCh38
NC_000016.9:g.88893028del , CM000678.1:g.88893028del	GRCh37
NC_000016.8:g.87420529del	NCBI36
NG_008667.1:g.35349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+84del MANE Select	ENSP00000268695.5:n.1139+84del
ENST00000268695.9:c.1139+84del	ENSP00000268695.5:n.1139+84del
ENST00000562593.5:n.4548+84del
ENST00000564263.1:n.415+84del
ENST00000567525.5:c.820+84del	ENSP00000454484.1:n.820+84del
ENST00000568613.5:c.1258+84del	ENSP00000457921.1:n.1258+84del
NM_000512.4:c.1139+84del	NP_000503.1:n.1139+84del
XM_005256301.2:c.1139+84del	XP_005256358.1:n.1139+84del
XM_005256302.1:c.1157+84del	XP_005256359.1:n.1157+84del
XM_011522982.1:c.1157+84del	XP_011521284.1:n.1157+84del
XM_011522984.1:c.1157+84del	XP_011521286.1:n.1157+84del
NM_001323543.1:c.584+84del	NP_001310472.1:n.584+84del
NM_001323544.1:c.1157+84del	NP_001310473.1:n.1157+84del
XM_005256301.3:c.1139+84del	XP_005256358.1:n.1139+84del
XM_011522982.2:c.1157+84del	XP_011521284.1:n.1157+84del
XM_017023111.2:c.1157+84del	XP_016878600.1:n.1157+84del
XM_017023112.2:c.1157+84del	XP_016878601.1:n.1157+84del
XM_017023113.1:c.584+84del	XP_016878602.1:n.584+84del
NM_000512.5:c.1139+84del MANE Select	NP_000503.1:n.1139+84del
NM_001323543.2:c.584+84del	NP_001310472.1:n.584+84del
NM_001323544.2:c.1157+84del	NP_001310473.1:n.1157+84del