Canonical Allele Identifier: CA913184752
Gene: SPTAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632274_128632282del , CM000671.2:g.128632274_128632282del GRCh38
NC_000009.11:g.131394553_131394561del , CM000671.1:g.131394553_131394561del GRCh37
NC_000009.10:g.130434374_130434382del NCBI36
NG_027748.1:g.84717_84725del
NG_034056.1:g.29570_29578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.6946_6954del ENSP00000486547.2:p.Gln2316_Gly2318del
ENST00000630866.2:c.6973_6981del ENSP00000487444.1:p.Gln2325_Gly2327del
ENST00000704202.1:c.6997_7005del ENSP00000515764.1:p.Gln2333_Gly2335del
ENST00000704203.1:c.6946_6954del ENSP00000515765.1:p.Gln2316_Gly2318del
ENST00000704204.1:c.6436_6444del ENSP00000515766.1:p.Gln2146_Gly2148del
ENST00000704206.1:c.4515_4523del
ENST00000704207.1:c.2852_2860del
ENST00000706487.1:c.6910_6918del ENSP00000516412.1:p.Gln2304_Gly2306del
ENST00000372739.7:c.6910_6918del MANE Select ENSP00000361824.4:p.Gln2304_Gly2306del
ENST00000636010.1:n.634_642del
ENST00000358161.9:c.6835_6843del ENSP00000350882.6:p.Gln2279_Gly2281del
ENST00000372731.8:c.6895_6903del ENSP00000361816.4:p.Gln2299_Gly2301del
ENST00000372739.5:c.6910_6918del ENSP00000361824.3:p.Gln2304_Gly2306del
ENST00000625980.2:n.864_872del
ENST00000630763.1:n.667_675del
ENST00000630804.2:c.6850_6858del ENSP00000486308.1:p.Gln2284_Gly2286del
ENST00000630866.1:c.6973_6981del ENSP00000487444.1:p.Gln2325_Gly2327del
NM_001130438.2:c.6910_6918del NP_001123910.1:p.Gln2304_Gly2306del
NM_001195532.1:c.6835_6843del NP_001182461.1:p.Gln2279_Gly2281del
NM_003127.3:c.6895_6903del NP_003118.2:p.Gln2299_Gly2301del
XM_006717245.1:c.7009_7017del XP_006717308.1:p.Gln2337_Gly2339del
XM_006717246.1:c.6994_7002del XP_006717309.1:p.Gln2332_Gly2334del
XM_006717247.1:c.6949_6957del XP_006717310.1:p.Gln2317_Gly2319del
XM_006717248.1:c.6946_6954del XP_006717311.1:p.Gln2316_Gly2318del
XM_006717249.1:c.6931_6939del XP_006717312.1:p.Gln2311_Gly2313del
XM_006717250.1:c.6928_6936del XP_006717313.1:p.Gln2310_Gly2312del
XM_006717251.1:c.6913_6921del XP_006717314.1:p.Gln2305_Gly2307del
XM_006717252.1:c.6886_6894del XP_006717315.1:p.Gln2296_Gly2298del
XM_006717253.1:c.6871_6879del XP_006717316.1:p.Gln2291_Gly2293del
XM_006717254.1:c.6973_6981del XP_006717317.1:p.Gln2325_Gly2327del
NM_001363759.1:c.6973_6981del NP_001350688.1:p.Gln2325_Gly2327del
NM_001363765.1:c.6850_6858del NP_001350694.1:p.Gln2284_Gly2286del
XM_006717247.2:c.6949_6957del XP_006717310.1:p.Gln2317_Gly2319del
XM_006717248.2:c.6946_6954del XP_006717311.1:p.Gln2316_Gly2318del
XM_006717251.2:c.6913_6921del XP_006717314.1:p.Gln2305_Gly2307del
XM_006717252.3:c.6886_6894del XP_006717315.1:p.Gln2296_Gly2298del
XM_017015059.1:c.6892_6900del XP_016870548.1:p.Gln2298_Gly2300del
XM_017015060.1:c.6868_6876del XP_016870549.1:p.Gln2290_Gly2292del
NM_001130438.3:c.6910_6918del MANE Select NP_001123910.1:p.Gln2304_Gly2306del
NM_001195532.2:c.6835_6843del NP_001182461.1:p.Gln2279_Gly2281del
NM_001363759.2:c.6973_6981del NP_001350688.1:p.Gln2325_Gly2327del
NM_001363765.2:c.6850_6858del NP_001350694.1:p.Gln2284_Gly2286del
NM_001375310.1:c.6997_7005del NP_001362239.1:p.Gln2333_Gly2335del
NM_001375311.2:c.6910_6918del NP_001362240.1:p.Gln2304_Gly2306del
NM_001375312.2:c.6946_6954del NP_001362241.2:p.Gln2316_Gly2318del
NM_001375313.1:c.6892_6900del NP_001362242.1:p.Gln2298_Gly2300del
NM_001375314.2:c.6850_6858del NP_001362243.1:p.Gln2284_Gly2286del
NM_001375318.1:c.7009_7017del NP_001362247.1:p.Gln2337_Gly2339del
NM_003127.4:c.6895_6903del NP_003118.2:p.Gln2299_Gly2301del