Canonical Allele Identifier: CA2241325034

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836024_88836063delinsTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGG , CM000678.2:g.88836024_88836063delinsTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGG	GRCh38
NC_000016.9:g.88902432_88902471delinsTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGG , CM000678.1:g.88902432_88902471delinsTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGG	GRCh37
NC_000016.8:g.87429933_87429972delinsTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGG	NCBI36
NG_008667.1:g.25904_25943delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA MANE Select	ENSP00000268695.5:n.633+138_634-175delinsCCCTCGCCCCGTGGGACGCG...
ENST00000268695.9:c.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	ENSP00000268695.5:n.633+138_634-175delinsCCCTCGCCCCGTGGGACGCG...
ENST00000562593.5:n.4042+138_4043-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA
ENST00000562831.1:c.417+138_418-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	ENSP00000455174.1:n.417+138_418-175delinsCCCTCGCCCCGTGGGACGCG...
ENST00000562931.5:n.221+138_222-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA
ENST00000566563.1:n.335+138_336-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA
ENST00000567525.5:c.314+138_315-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	ENSP00000454484.1:n.314+138_315-175delinsCCCTCGCCCCGTGGGACGCG...
ENST00000568613.5:c.752+138_753-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	ENSP00000457921.1:n.752+138_753-175delinsCCCTCGCCCCGTGGGACGCG...
NM_000512.4:c.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	NP_000503.1:n.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGA...
XM_005256301.2:c.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_005256358.1:n.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_005256302.1:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_005256359.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_011522982.1:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_011521284.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_011522984.1:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_011521286.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...
NM_001323543.1:c.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	NP_001310472.1:n.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGG...
NM_001323544.1:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	NP_001310473.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_005256301.3:c.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_005256358.1:n.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_011522982.2:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_011521284.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_017023111.2:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_016878600.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_017023112.2:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_016878601.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...
XM_017023113.1:c.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	XP_016878602.1:n.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGG...
NM_000512.5:c.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA MANE Select	NP_000503.1:n.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGA...
NM_001323543.2:c.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	NP_001310472.1:n.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGG...
NM_001323544.2:c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA	NP_001310473.1:n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGG...