Canonical Allele Identifier: CA2634889330

Gene: GALNS

Linked Data

• gnomAD v4: 16-88827133-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88827134_88827135del , CM000678.2:g.88827134_88827135del	GRCh38
NC_000016.9:g.88893542_88893543del , CM000678.1:g.88893542_88893543del	GRCh37
NC_000016.8:g.87421043_87421044del	NCBI36
NG_008667.1:g.34832_34833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1003-297_1003-296del MANE Select	ENSP00000268695.5:n.1003-297_1003-296del
ENST00000268695.9:c.1003-297_1003-296del	ENSP00000268695.5:n.1003-297_1003-296del
ENST00000562593.5:n.4412-297_4412-296del
ENST00000567525.5:c.684-297_684-296del	ENSP00000454484.1:n.684-297_684-296del
ENST00000568613.5:c.1122-297_1122-296del	ENSP00000457921.1:n.1122-297_1122-296del
NM_000512.4:c.1003-297_1003-296del	NP_000503.1:n.1003-297_1003-296del
XM_005256301.2:c.1003-297_1003-296del	XP_005256358.1:n.1003-297_1003-296del
XM_005256302.1:c.1021-297_1021-296del	XP_005256359.1:n.1021-297_1021-296del
XM_011522982.1:c.1021-297_1021-296del	XP_011521284.1:n.1021-297_1021-296del
XM_011522984.1:c.1021-297_1021-296del	XP_011521286.1:n.1021-297_1021-296del
NM_001323543.1:c.448-297_448-296del	NP_001310472.1:n.448-297_448-296del
NM_001323544.1:c.1021-297_1021-296del	NP_001310473.1:n.1021-297_1021-296del
XM_005256301.3:c.1003-297_1003-296del	XP_005256358.1:n.1003-297_1003-296del
XM_011522982.2:c.1021-297_1021-296del	XP_011521284.1:n.1021-297_1021-296del
XM_017023111.2:c.1021-297_1021-296del	XP_016878600.1:n.1021-297_1021-296del
XM_017023112.2:c.1021-297_1021-296del	XP_016878601.1:n.1021-297_1021-296del
XM_017023113.1:c.448-297_448-296del	XP_016878602.1:n.448-297_448-296del
NM_000512.5:c.1003-297_1003-296del MANE Select	NP_000503.1:n.1003-297_1003-296del
NM_001323543.2:c.448-297_448-296del	NP_001310472.1:n.448-297_448-296del
NM_001323544.2:c.1021-297_1021-296del	NP_001310473.1:n.1021-297_1021-296del