Canonical Allele Identifier: CA2560286340

Gene: SLC17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.25812698_25812699insGATGTAGACATA , CM000668.2:g.25812698_25812699insGATGTAGACATA	GRCh38
NC_000006.11:g.25812926_25812927insGATGTAGACATA , CM000668.1:g.25812926_25812927insGATGTAGACATA	GRCh37
NC_000006.10:g.25920905_25920906insGATGTAGACATA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244527.10:c.897+132_897+133insTATGTCTACATC MANE Select	ENSP00000244527.4:n.897+132_897+133insTATGTCTACATC
ENST00000244527.8:c.897+132_897+133insTATGTCTACATC	ENSP00000244527.4:n.897+132_897+133insTATGTCTACATC
ENST00000377886.6:c.*148+132_*148+133insTATGTCTACATC	ENSP00000367118.2:n.*148+132_*148+133insTATGTCTACATC
ENST00000468082.1:c.735+396_735+397insTATGTCTACATC	ENSP00000420546.1:n.735+396_735+397insTATGTCTACATC
ENST00000476801.5:c.897+132_897+133insTATGTCTACATC	ENSP00000420614.1:n.897+132_897+133insTATGTCTACATC
NM_005074.3:c.897+132_897+133insTATGTCTACATC	NP_005065.2:n.897+132_897+133insTATGTCTACATC
XM_011514818.1:c.897+132_897+133insTATGTCTACATC	XP_011513120.1:n.897+132_897+133insTATGTCTACATC
XM_011514819.1:c.810+132_810+133insTATGTCTACATC	XP_011513121.1:n.810+132_810+133insTATGTCTACATC
XM_011514820.1:c.735+396_735+397insTATGTCTACATC	XP_011513122.1:n.735+396_735+397insTATGTCTACATC
XM_011514821.1:c.684+132_684+133insTATGTCTACATC	XP_011513123.1:n.684+132_684+133insTATGTCTACATC
XM_011514818.2:c.1047+132_1047+133insTATGTCTACATC	XP_011513120.2:n.1047+132_1047+133insTATGTCTACATC
XM_011514819.2:c.960+132_960+133insTATGTCTACATC	XP_011513121.2:n.960+132_960+133insTATGTCTACATC
XM_011514820.2:c.885+396_885+397insTATGTCTACATC	XP_011513122.2:n.885+396_885+397insTATGTCTACATC
XM_011514821.2:c.684+132_684+133insTATGTCTACATC	XP_011513123.1:n.684+132_684+133insTATGTCTACATC
XM_017011199.1:c.1047+132_1047+133insTATGTCTACATC	XP_016866688.1:n.1047+132_1047+133insTATGTCTACATC
XM_017011200.1:c.1047+132_1047+133insTATGTCTACATC	XP_016866689.1:n.1047+132_1047+133insTATGTCTACATC
XM_017011201.2:c.1047+132_1047+133insTATGTCTACATC	XP_016866690.1:n.1047+132_1047+133insTATGTCTACATC
XM_017011202.1:c.963+132_963+133insTATGTCTACATC	XP_016866691.1:n.963+132_963+133insTATGTCTACATC
NM_005074.5:c.897+132_897+133insTATGTCTACATC MANE Select	NP_005065.2:n.897+132_897+133insTATGTCTACATC