Canonical Allele Identifier: CA624211422

Gene: GALNS

Linked Data

• dbSNP Id: rs1910916376
• gnomAD v2: 16-88892761-T-TGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGC
• gnomAD v3: 16-88826353-T-TGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGC
• gnomAD v4: 16-88826353-T-TGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGC
• MyVariant Identifiers: chr16:g.88892761_88892762insGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGC (hg19) ; chr16:g.88826353_88826354insGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826394_88826395insACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGG , CM000678.2:g.88826394_88826395insACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGG	GRCh38
NC_000016.9:g.88892802_88892803insACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGG , CM000678.1:g.88892802_88892803insACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGG	GRCh37
NC_000016.8:g.87420303_87420304insACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGG	NCBI36
NG_008667.1:g.35613_35614insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC MANE Select	ENSP00000268695.5:n.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCT...
ENST00000268695.9:c.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	ENSP00000268695.5:n.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCT...
ENST00000562593.5:n.4548+348_4548+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC
ENST00000564263.1:n.415+348_415+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC
ENST00000567525.5:c.820+348_820+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	ENSP00000454484.1:n.820+348_820+349insGCCCCTGTCCGCCCCACCCCTGT...
ENST00000568613.5:c.1258+348_1258+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	ENSP00000457921.1:n.1258+348_1258+349insGCCCCTGTCCGCCCCACCCCT...
NM_000512.4:c.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_000503.1:n.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCC...
XM_005256301.2:c.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_005256358.1:n.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_005256302.1:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_005256359.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_011522982.1:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_011521284.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_011522984.1:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_011521286.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...
NM_001323543.1:c.584+348_584+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310472.1:n.584+348_584+349insGCCCCTGTCCGCCCCACCCCTGTTCC...
NM_001323544.1:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310473.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_005256301.3:c.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_005256358.1:n.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_011522982.2:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_011521284.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_017023111.2:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_016878600.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_017023112.2:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_016878601.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...
XM_017023113.1:c.584+348_584+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	XP_016878602.1:n.584+348_584+349insGCCCCTGTCCGCCCCACCCCTGTTCC...
NM_000512.5:c.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC MANE Select	NP_000503.1:n.1139+348_1139+349insGCCCCTGTCCGCCCCACCCCTGTTCCC...
NM_001323543.2:c.584+348_584+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310472.1:n.584+348_584+349insGCCCCTGTCCGCCCCACCCCTGTTCC...
NM_001323544.2:c.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCCCACCCCTGTTCCCTGCCTGTACCCAGACACACGCC	NP_001310473.1:n.1157+348_1157+349insGCCCCTGTCCGCCCCACCCCTGTT...