Canonical Allele Identifier: CA3039035891

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88817975_88817986del , CM000678.2:g.88817975_88817986del	GRCh38
NC_000016.9:g.88884383_88884394del , CM000678.1:g.88884383_88884394del	GRCh37
NC_000016.8:g.87411884_87411895del	NCBI36
NG_008667.1:g.43981_43992del

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1482+21_1482+32del MANE Select	NP_000503.1:n.1482+21_1482+32del
ENST00000268695.10:c.1482+21_1482+32del MANE Select	ENSP00000268695.5:n.1482+21_1482+32del
NM_000512.4:c.1482+21_1482+32del	NP_000503.1:n.1482+21_1482+32del
NM_001323543.1:c.927+21_927+32del	NP_001310472.1:n.927+21_927+32del
NM_001323543.2:c.927+21_927+32del	NP_001310472.1:n.927+21_927+32del
NM_001323544.1:c.1500+21_1500+32del	NP_001310473.1:n.1500+21_1500+32del
NM_001323544.2:c.1500+21_1500+32del	NP_001310473.1:n.1500+21_1500+32del
ENST00000268695.9:c.1482+21_1482+32del	ENSP00000268695.5:n.1482+21_1482+32del
ENST00000562593.5:n.4891+21_4891+32del
ENST00000567525.5:c.1163+21_1163+32del	ENSP00000454484.1:n.1163+21_1163+32del
ENST00000568613.5:c.1601+21_1601+32del	ENSP00000457921.1:n.1601+21_1601+32del
XM_005256301.2:c.1482+21_1482+32del	XP_005256358.1:n.1482+21_1482+32del
XM_005256301.3:c.1482+21_1482+32del	XP_005256358.1:n.1482+21_1482+32del
XM_005256302.1:c.1500+21_1500+32del	XP_005256359.1:n.1500+21_1500+32del
XM_011522982.1:c.1500+21_1500+32del	XP_011521284.1:n.1500+21_1500+32del
XM_011522982.2:c.1500+21_1500+32del	XP_011521284.1:n.1500+21_1500+32del
XM_011522984.1:c.1500+21_1500+32del	XP_011521286.1:n.1500+21_1500+32del
XM_017023111.2:c.1500+21_1500+32del	XP_016878600.1:n.1500+21_1500+32del
XM_017023112.2:c.1500+21_1500+32del	XP_016878601.1:n.1500+21_1500+32del
XM_017023113.1:c.927+21_927+32del	XP_016878602.1:n.927+21_927+32del