Canonical Allele Identifier: CA2634892620

Gene: GALNS

Linked Data

• gnomAD v4: 16-88835908-ACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835925_88836004del , CM000678.2:g.88835925_88836004del	GRCh38
NC_000016.9:g.88902333_88902412del , CM000678.1:g.88902333_88902412del	GRCh37
NC_000016.8:g.87429834_87429913del	NCBI36
NG_008667.1:g.25979_26058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.634-139_634-60del MANE Select	ENSP00000268695.5:n.634-139_634-60del
ENST00000268695.9:c.634-139_634-60del	ENSP00000268695.5:n.634-139_634-60del
ENST00000562593.5:n.4043-139_4043-60del
ENST00000562831.1:c.418-139_418-60del	ENSP00000455174.1:n.418-139_418-60del
ENST00000562931.5:n.222-139_222-60del
ENST00000566563.1:n.336-139_336-60del
ENST00000567525.5:c.315-139_315-60del	ENSP00000454484.1:n.315-139_315-60del
ENST00000568613.5:c.753-139_753-60del	ENSP00000457921.1:n.753-139_753-60del
NM_000512.4:c.634-139_634-60del	NP_000503.1:n.634-139_634-60del
XM_005256301.2:c.634-139_634-60del	XP_005256358.1:n.634-139_634-60del
XM_005256302.1:c.652-139_652-60del	XP_005256359.1:n.652-139_652-60del
XM_011522982.1:c.652-139_652-60del	XP_011521284.1:n.652-139_652-60del
XM_011522984.1:c.652-139_652-60del	XP_011521286.1:n.652-139_652-60del
NM_001323543.1:c.79-139_79-60del	NP_001310472.1:n.79-139_79-60del
NM_001323544.1:c.652-139_652-60del	NP_001310473.1:n.652-139_652-60del
XM_005256301.3:c.634-139_634-60del	XP_005256358.1:n.634-139_634-60del
XM_011522982.2:c.652-139_652-60del	XP_011521284.1:n.652-139_652-60del
XM_017023111.2:c.652-139_652-60del	XP_016878600.1:n.652-139_652-60del
XM_017023112.2:c.652-139_652-60del	XP_016878601.1:n.652-139_652-60del
XM_017023113.1:c.79-139_79-60del	XP_016878602.1:n.79-139_79-60del
NM_000512.5:c.634-139_634-60del MANE Select	NP_000503.1:n.634-139_634-60del
NM_001323543.2:c.79-139_79-60del	NP_001310472.1:n.79-139_79-60del
NM_001323544.2:c.652-139_652-60del	NP_001310473.1:n.652-139_652-60del