Canonical Allele Identifier: CA2576094024

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88817957_88817960del , CM000678.2:g.88817957_88817960del	GRCh38
NC_000016.9:g.88884365_88884368del , CM000678.1:g.88884365_88884368del	GRCh37
NC_000016.8:g.87411866_87411869del	NCBI36
NG_008667.1:g.44013_44016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1482+53_1482+56del MANE Select	ENSP00000268695.5:n.1482+53_1482+56del
ENST00000268695.9:c.1482+53_1482+56del	ENSP00000268695.5:n.1482+53_1482+56del
ENST00000562593.5:n.4891+53_4891+56del
ENST00000567525.5:c.1163+53_1163+56del	ENSP00000454484.1:n.1163+53_1163+56del
ENST00000568613.5:c.1601+53_1601+56del	ENSP00000457921.1:n.1601+53_1601+56del
NM_000512.4:c.1482+53_1482+56del	NP_000503.1:n.1482+53_1482+56del
XM_005256301.2:c.1482+53_1482+56del	XP_005256358.1:n.1482+53_1482+56del
XM_005256302.1:c.1500+53_1500+56del	XP_005256359.1:n.1500+53_1500+56del
XM_011522982.1:c.1500+53_1500+56del	XP_011521284.1:n.1500+53_1500+56del
XM_011522984.1:c.1500+53_1500+56del	XP_011521286.1:n.1500+53_1500+56del
NM_001323543.1:c.927+53_927+56del	NP_001310472.1:n.927+53_927+56del
NM_001323544.1:c.1500+53_1500+56del	NP_001310473.1:n.1500+53_1500+56del
XM_005256301.3:c.1482+53_1482+56del	XP_005256358.1:n.1482+53_1482+56del
XM_011522982.2:c.1500+53_1500+56del	XP_011521284.1:n.1500+53_1500+56del
XM_017023111.2:c.1500+53_1500+56del	XP_016878600.1:n.1500+53_1500+56del
XM_017023112.2:c.1500+53_1500+56del	XP_016878601.1:n.1500+53_1500+56del
XM_017023113.1:c.927+53_927+56del	XP_016878602.1:n.927+53_927+56del
NM_000512.5:c.1482+53_1482+56del MANE Select	NP_000503.1:n.1482+53_1482+56del
NM_001323543.2:c.927+53_927+56del	NP_001310472.1:n.927+53_927+56del
NM_001323544.2:c.1500+53_1500+56del	NP_001310473.1:n.1500+53_1500+56del