Canonical Allele Identifier: CA2582342662

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 2582524
• ClinVar RCV Id: RCV003333522

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128618075_128618076del , CM000671.2:g.128618075_128618076del	GRCh38
NC_000009.11:g.131380354_131380355del , CM000671.1:g.131380354_131380355del	GRCh37
NC_000009.10:g.130420175_130420176del	NCBI36
NG_027748.1:g.70518_70519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5603_5604del	ENSP00000486547.2:p.His1868LeufsTer?
ENST00000630866.2:c.5567_5568del	ENSP00000487444.1:p.His1856LeufsTer?
ENST00000704202.1:c.5567_5568del	ENSP00000515764.1:p.His1856LeufsTer?
ENST00000704203.1:c.5603_5604del	ENSP00000515765.1:p.His1868LeufsTer?
ENST00000704204.1:c.5030_5031del	ENSP00000515766.1:p.His1677LeufsTer?
ENST00000704206.1:c.3190_3191del
ENST00000704207.1:c.1177_1178del
ENST00000706487.1:c.5567_5568del	ENSP00000516412.1:p.His1856LeufsTer?
ENST00000372739.7:c.5567_5568del MANE Select	ENSP00000361824.4:p.His1856LeufsTer?
ENST00000637434.1:n.795_796del
ENST00000358161.9:c.5492_5493del	ENSP00000350882.6:p.His1831LeufsTer?
ENST00000372731.8:c.5552_5553del	ENSP00000361816.4:p.His1851LeufsTer?
ENST00000372739.5:c.5567_5568del	ENSP00000361824.3:p.His1856LeufsTer?
ENST00000630804.2:c.5507_5508del	ENSP00000486308.1:p.His1836LeufsTer?
ENST00000630866.1:c.5567_5568del	ENSP00000487444.1:p.His1856LeufsTer?
NM_001130438.2:c.5567_5568del	NP_001123910.1:p.His1856LeufsTer?
NM_001195532.1:c.5492_5493del	NP_001182461.1:p.His1831LeufsTer?
NM_003127.3:c.5552_5553del	NP_003118.2:p.His1851LeufsTer?
XM_006717245.1:c.5603_5604del	XP_006717308.1:p.His1868LeufsTer?
XM_006717246.1:c.5588_5589del	XP_006717309.1:p.His1863LeufsTer?
XM_006717247.1:c.5543_5544del	XP_006717310.1:p.His1848LeufsTer?
XM_006717248.1:c.5603_5604del	XP_006717311.1:p.His1868LeufsTer?
XM_006717249.1:c.5588_5589del	XP_006717312.1:p.His1863LeufsTer?
XM_006717250.1:c.5603_5604del	XP_006717313.1:p.His1868LeufsTer?
XM_006717251.1:c.5507_5508del	XP_006717314.1:p.His1836LeufsTer?
XM_006717252.1:c.5543_5544del	XP_006717315.1:p.His1848LeufsTer?
XM_006717253.1:c.5528_5529del	XP_006717316.1:p.His1843LeufsTer?
XM_006717254.1:c.5567_5568del	XP_006717317.1:p.His1856LeufsTer?
NM_001363759.1:c.5567_5568del	NP_001350688.1:p.His1856LeufsTer?
NM_001363765.1:c.5507_5508del	NP_001350694.1:p.His1836LeufsTer?
XM_006717247.2:c.5543_5544del	XP_006717310.1:p.His1848LeufsTer?
XM_006717248.2:c.5603_5604del	XP_006717311.1:p.His1868LeufsTer?
XM_006717251.2:c.5507_5508del	XP_006717314.1:p.His1836LeufsTer?
XM_006717252.3:c.5543_5544del	XP_006717315.1:p.His1848LeufsTer?
XM_017015059.1:c.5567_5568del	XP_016870548.1:p.His1856LeufsTer?
XM_017015060.1:c.5543_5544del	XP_016870549.1:p.His1848LeufsTer?
NM_001130438.3:c.5567_5568del MANE Select	NP_001123910.1:p.His1856LeufsTer?
NM_001195532.2:c.5492_5493del	NP_001182461.1:p.His1831LeufsTer?
NM_001363759.2:c.5567_5568del	NP_001350688.1:p.His1856LeufsTer?
NM_001363765.2:c.5507_5508del	NP_001350694.1:p.His1836LeufsTer?
NM_001375310.1:c.5567_5568del	NP_001362239.1:p.His1856LeufsTer?
NM_001375311.2:c.5567_5568del	NP_001362240.1:p.His1856LeufsTer?
NM_001375312.2:c.5603_5604del	NP_001362241.2:p.His1868LeufsTer?
NM_001375313.1:c.5567_5568del	NP_001362242.1:p.His1856LeufsTer?
NM_001375314.2:c.5507_5508del	NP_001362243.1:p.His1836LeufsTer?
NM_001375318.1:c.5603_5604del	NP_001362247.1:p.His1868LeufsTer?
NM_003127.4:c.5552_5553del	NP_003118.2:p.His1851LeufsTer?