Canonical Allele Identifier: CA624207023

Gene: GALNS

Linked Data

• dbSNP Id: rs1567531477
• gnomAD v2: 16-88902333-ACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACG-A
• gnomAD v3: 16-88835925-ACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACG-A
• gnomAD v4: 16-88835925-ACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACG-A
• MyVariant Identifiers: chr16:g.88902334_88902373del (hg19) ; chr16:g.88835926_88835965del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835939_88835978del , CM000678.2:g.88835939_88835978del	GRCh38
NC_000016.9:g.88902347_88902386del , CM000678.1:g.88902347_88902386del	GRCh37
NC_000016.8:g.87429848_87429887del	NCBI36
NG_008667.1:g.26002_26041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.634-116_634-77del MANE Select	ENSP00000268695.5:n.634-116_634-77del
ENST00000268695.9:c.634-116_634-77del	ENSP00000268695.5:n.634-116_634-77del
ENST00000562593.5:n.4043-116_4043-77del
ENST00000562831.1:c.418-116_418-77del	ENSP00000455174.1:n.418-116_418-77del
ENST00000562931.5:n.222-116_222-77del
ENST00000566563.1:n.336-116_336-77del
ENST00000567525.5:c.315-116_315-77del	ENSP00000454484.1:n.315-116_315-77del
ENST00000568613.5:c.753-116_753-77del	ENSP00000457921.1:n.753-116_753-77del
NM_000512.4:c.634-116_634-77del	NP_000503.1:n.634-116_634-77del
XM_005256301.2:c.634-116_634-77del	XP_005256358.1:n.634-116_634-77del
XM_005256302.1:c.652-116_652-77del	XP_005256359.1:n.652-116_652-77del
XM_011522982.1:c.652-116_652-77del	XP_011521284.1:n.652-116_652-77del
XM_011522984.1:c.652-116_652-77del	XP_011521286.1:n.652-116_652-77del
NM_001323543.1:c.79-116_79-77del	NP_001310472.1:n.79-116_79-77del
NM_001323544.1:c.652-116_652-77del	NP_001310473.1:n.652-116_652-77del
XM_005256301.3:c.634-116_634-77del	XP_005256358.1:n.634-116_634-77del
XM_011522982.2:c.652-116_652-77del	XP_011521284.1:n.652-116_652-77del
XM_017023111.2:c.652-116_652-77del	XP_016878600.1:n.652-116_652-77del
XM_017023112.2:c.652-116_652-77del	XP_016878601.1:n.652-116_652-77del
XM_017023113.1:c.79-116_79-77del	XP_016878602.1:n.79-116_79-77del
NM_000512.5:c.634-116_634-77del MANE Select	NP_000503.1:n.634-116_634-77del
NM_001323543.2:c.79-116_79-77del	NP_001310472.1:n.79-116_79-77del
NM_001323544.2:c.652-116_652-77del	NP_001310473.1:n.652-116_652-77del