Canonical Allele Identifier: CA2739265102

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 2831687
• ClinVar RCV Id: RCV003754446

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128604339_128604356dup , CM000671.2:g.128604339_128604356dup	GRCh38
NC_000009.11:g.131366618_131366635dup , CM000671.1:g.131366618_131366635dup	GRCh37
NC_000009.10:g.130406439_130406456dup	NCBI36
NG_027748.1:g.56782_56799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.3677_3694dup	ENSP00000486547.2:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
ENST00000630866.2:c.3641_3658dup	ENSP00000487444.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
ENST00000704202.1:c.3641_3658dup	ENSP00000515764.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
ENST00000704203.1:c.3677_3694dup	ENSP00000515765.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
ENST00000704204.1:c.3104_3121dup	ENSP00000515766.1:p.Gln1040_Gln1041insArgTrpArgSerLeuGln
ENST00000704206.1:c.1264_1281dup
ENST00000706487.1:c.3641_3658dup	ENSP00000516412.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
ENST00000372739.7:c.3641_3658dup MANE Select	ENSP00000361824.4:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
ENST00000635853.1:n.4776_4793dup
ENST00000358161.9:c.3581_3598dup	ENSP00000350882.6:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
ENST00000372731.8:c.3641_3658dup	ENSP00000361816.4:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
ENST00000372739.5:c.3641_3658dup	ENSP00000361824.3:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
ENST00000461855.3:n.214_231dup
ENST00000630804.2:c.3581_3598dup	ENSP00000486308.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
ENST00000630866.1:c.3641_3658dup	ENSP00000487444.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001130438.2:c.3641_3658dup	NP_001123910.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001195532.1:c.3581_3598dup	NP_001182461.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
NM_003127.3:c.3641_3658dup	NP_003118.2:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
XM_006717245.1:c.3677_3694dup	XP_006717308.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
XM_006717246.1:c.3677_3694dup	XP_006717309.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
XM_006717247.1:c.3617_3634dup	XP_006717310.1:p.Gln1211_Gln1212insArgTrpArgSerLeuGln
XM_006717248.1:c.3677_3694dup	XP_006717311.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
XM_006717249.1:c.3677_3694dup	XP_006717312.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
XM_006717250.1:c.3677_3694dup	XP_006717313.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
XM_006717251.1:c.3581_3598dup	XP_006717314.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
XM_006717252.1:c.3617_3634dup	XP_006717315.1:p.Gln1211_Gln1212insArgTrpArgSerLeuGln
XM_006717253.1:c.3617_3634dup	XP_006717316.1:p.Gln1211_Gln1212insArgTrpArgSerLeuGln
XM_006717254.1:c.3641_3658dup	XP_006717317.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001363759.1:c.3641_3658dup	NP_001350688.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001363765.1:c.3581_3598dup	NP_001350694.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
XM_006717247.2:c.3617_3634dup	XP_006717310.1:p.Gln1211_Gln1212insArgTrpArgSerLeuGln
XM_006717248.2:c.3677_3694dup	XP_006717311.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
XM_006717251.2:c.3581_3598dup	XP_006717314.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
XM_006717252.3:c.3617_3634dup	XP_006717315.1:p.Gln1211_Gln1212insArgTrpArgSerLeuGln
XM_017015059.1:c.3641_3658dup	XP_016870548.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
XM_017015060.1:c.3617_3634dup	XP_016870549.1:p.Gln1211_Gln1212insArgTrpArgSerLeuGln
NM_001130438.3:c.3641_3658dup MANE Select	NP_001123910.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001195532.2:c.3581_3598dup	NP_001182461.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
NM_001363759.2:c.3641_3658dup	NP_001350688.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001363765.2:c.3581_3598dup	NP_001350694.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
NM_001375310.1:c.3641_3658dup	NP_001362239.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001375311.2:c.3641_3658dup	NP_001362240.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001375312.2:c.3677_3694dup	NP_001362241.2:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
NM_001375313.1:c.3641_3658dup	NP_001362242.1:p.Gln1219_Gln1220insArgTrpArgSerLeuGln
NM_001375314.2:c.3581_3598dup	NP_001362243.1:p.Gln1199_Gln1200insArgTrpArgSerLeuGln
NM_001375318.1:c.3677_3694dup	NP_001362247.1:p.Gln1231_Gln1232insArgTrpArgSerLeuGln
NM_003127.4:c.3641_3658dup	NP_003118.2:p.Gln1219_Gln1220insArgTrpArgSerLeuGln