Canonical Allele Identifier: CA2241324969

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835943_88836023delinsTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA , CM000678.2:g.88835943_88836023delinsTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA	GRCh38
NC_000016.9:g.88902351_88902431delinsTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA , CM000678.1:g.88902351_88902431delinsTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA	GRCh37
NC_000016.8:g.87429852_87429932delinsTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA	NCBI36
NG_008667.1:g.25944_26024delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA MANE Select	ENSP00000268695.5:n.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGT...
ENST00000268695.9:c.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	ENSP00000268695.5:n.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGT...
ENST00000562593.5:n.4043-174_4043-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
ENST00000562831.1:c.418-174_418-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	ENSP00000455174.1:n.418-174_418-94delinsTCCTCGCCCCGTGGGACGCGT...
ENST00000562931.5:n.222-174_222-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
ENST00000566563.1:n.336-174_336-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
ENST00000567525.5:c.315-174_315-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	ENSP00000454484.1:n.315-174_315-94delinsTCCTCGCCCCGTGGGACGCGT...
ENST00000568613.5:c.753-174_753-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	ENSP00000457921.1:n.753-174_753-94delinsTCCTCGCCCCGTGGGACGCGT...
NM_000512.4:c.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	NP_000503.1:n.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGAC...
XM_005256301.2:c.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_005256358.1:n.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_005256302.1:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_005256359.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_011522982.1:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_011521284.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_011522984.1:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_011521286.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
NM_001323543.1:c.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	NP_001310472.1:n.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGA...
NM_001323544.1:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	NP_001310473.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_005256301.3:c.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_005256358.1:n.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_011522982.2:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_011521284.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_017023111.2:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_016878600.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_017023112.2:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_016878601.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...
XM_017023113.1:c.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	XP_016878602.1:n.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGA...
NM_000512.5:c.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA MANE Select	NP_000503.1:n.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGAC...
NM_001323543.2:c.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	NP_001310472.1:n.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGA...
NM_001323544.2:c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA	NP_001310473.1:n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGG...