Canonical Allele Identifier: CA980343605

Gene: GALNS

Linked Data

• gnomAD v3: 16-88826351-G-GGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGC
• gnomAD v4: 16-88826351-G-GGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826388_88826389insCGGCGGACAGGCGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG , CM000678.2:g.88826388_88826389insCGGCGGACAGGCGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG	GRCh38
NC_000016.9:g.88892796_88892797insCGGCGGACAGGCGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG , CM000678.1:g.88892796_88892797insCGGCGGACAGGCGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG	GRCh37
NC_000016.8:g.87420297_87420298insCGGCGGACAGGCGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTG	NCBI36
NG_008667.1:g.35615_35616insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC MANE Select	ENSP00000268695.5:n.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGT...
ENST00000268695.9:c.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	ENSP00000268695.5:n.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGT...
ENST00000562593.5:n.4548+350_4548+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC
ENST00000564263.1:n.415+350_415+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC
ENST00000567525.5:c.820+350_820+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	ENSP00000454484.1:n.820+350_820+351insGCCTGTCCGCCGCACCCCTGTTC...
ENST00000568613.5:c.1258+350_1258+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	ENSP00000457921.1:n.1258+350_1258+351insGCCTGTCCGCCGCACCCCTGT...
NM_000512.4:c.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	NP_000503.1:n.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTG...
XM_005256301.2:c.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_005256358.1:n.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_005256302.1:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_005256359.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_011522982.1:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_011521284.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_011522984.1:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_011521286.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...
NM_001323543.1:c.584+350_584+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	NP_001310472.1:n.584+350_584+351insGCCTGTCCGCCGCACCCCTGTTCCCT...
NM_001323544.1:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	NP_001310473.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_005256301.3:c.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_005256358.1:n.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_011522982.2:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_011521284.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_017023111.2:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_016878600.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_017023112.2:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_016878601.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...
XM_017023113.1:c.584+350_584+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	XP_016878602.1:n.584+350_584+351insGCCTGTCCGCCGCACCCCTGTTCCCT...
NM_000512.5:c.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC MANE Select	NP_000503.1:n.1139+350_1139+351insGCCTGTCCGCCGCACCCCTGTTCCCTG...
NM_001323543.2:c.584+350_584+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	NP_001310472.1:n.584+350_584+351insGCCTGTCCGCCGCACCCCTGTTCCCT...
NM_001323544.2:c.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCAC	NP_001310473.1:n.1157+350_1157+351insGCCTGTCCGCCGCACCCCTGTTCC...