Canonical Allele Identifier: CA2241324960

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835937_88835978delinsGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGC , CM000678.2:g.88835937_88835978delinsGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGC	GRCh38
NC_000016.9:g.88902345_88902386delinsGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGC , CM000678.1:g.88902345_88902386delinsGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGC	GRCh37
NC_000016.8:g.87429846_87429887delinsGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGC	NCBI36
NG_008667.1:g.25989_26030delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC MANE Select	ENSP00000268695.5:n.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGA...
ENST00000268695.9:c.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	ENSP00000268695.5:n.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGA...
ENST00000562593.5:n.4043-129_4043-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC
ENST00000562831.1:c.418-129_418-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	ENSP00000455174.1:n.418-129_418-88delinsGCCCCGTGGGACGCGTGGGGA...
ENST00000562931.5:n.222-129_222-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC
ENST00000566563.1:n.336-129_336-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC
ENST00000567525.5:c.315-129_315-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	ENSP00000454484.1:n.315-129_315-88delinsGCCCCGTGGGACGCGTGGGGA...
ENST00000568613.5:c.753-129_753-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	ENSP00000457921.1:n.753-129_753-88delinsGCCCCGTGGGACGCGTGGGGA...
NM_000512.4:c.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	NP_000503.1:n.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGA...
XM_005256301.2:c.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_005256358.1:n.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_005256302.1:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_005256359.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_011522982.1:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_011521284.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_011522984.1:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_011521286.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...
NM_001323543.1:c.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	NP_001310472.1:n.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGG...
NM_001323544.1:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	NP_001310473.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_005256301.3:c.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_005256358.1:n.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_011522982.2:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_011521284.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_017023111.2:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_016878600.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_017023112.2:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_016878601.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...
XM_017023113.1:c.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	XP_016878602.1:n.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGG...
NM_000512.5:c.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC MANE Select	NP_000503.1:n.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGA...
NM_001323543.2:c.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	NP_001310472.1:n.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGG...
NM_001323544.2:c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC	NP_001310473.1:n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGG...