Canonical Allele Identifier: CA980343544

Gene: GALNS

Linked Data

• gnomAD v3: 16-88826304-C-CGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGGGCGGCGGACAGGGGT
• gnomAD v4: 16-88826304-C-CGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGGGCGGCGGACAGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826337_88826338insGGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGG , CM000678.2:g.88826337_88826338insGGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGG	GRCh38
NC_000016.9:g.88892745_88892746insGGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGG , CM000678.1:g.88892745_88892746insGGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGG	GRCh37
NC_000016.8:g.87420246_87420247insGGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGG	NCBI36
NG_008667.1:g.35662_35663insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC MANE Select	ENSP00000268695.5:n.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCT...
ENST00000268695.9:c.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	ENSP00000268695.5:n.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCT...
ENST00000562593.5:n.4548+397_4548+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC
ENST00000564263.1:n.415+397_415+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC
ENST00000567525.5:c.820+397_820+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	ENSP00000454484.1:n.820+397_820+398insACCCCTGTCCGCCGCCCCCCTGT...
ENST00000568613.5:c.1258+397_1258+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	ENSP00000457921.1:n.1258+397_1258+398insACCCCTGTCCGCCGCCCCCCT...
NM_000512.4:c.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_000503.1:n.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCC...
XM_005256301.2:c.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_005256358.1:n.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_005256302.1:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_005256359.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_011522982.1:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_011521284.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_011522984.1:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_011521286.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...
NM_001323543.1:c.584+397_584+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310472.1:n.584+397_584+398insACCCCTGTCCGCCGCCCCCCTGTTCC...
NM_001323544.1:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310473.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_005256301.3:c.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_005256358.1:n.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_011522982.2:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_011521284.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_017023111.2:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_016878600.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_017023112.2:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_016878601.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...
XM_017023113.1:c.584+397_584+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_016878602.1:n.584+397_584+398insACCCCTGTCCGCCGCCCCCCTGTTCC...
NM_000512.5:c.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC MANE Select	NP_000503.1:n.1139+397_1139+398insACCCCTGTCCGCCGCCCCCCTGTTCCC...
NM_001323543.2:c.584+397_584+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310472.1:n.584+397_584+398insACCCCTGTCCGCCGCCCCCCTGTTCC...
NM_001323544.2:c.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310473.1:n.1157+397_1157+398insACCCCTGTCCGCCGCCCCCCTGTT...