Canonical Allele Identifier: CA173597

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 160028
• ClinVar RCV Id: RCV001249449 ; RCV001731396 ; RCV002316953 ; RCV003390833
• dbSNP Id: rs587784440
• MyVariant Identifiers: chr9:g.131394551_131394559dupACCAGCTGG (hg19) ; chr9:g.128632272_128632280dupACCAGCTGG (hg38)
• PubMed: PMID:22656320

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632272_128632280dup , CM000671.2:g.128632272_128632280dup	GRCh38
NC_000009.11:g.131394551_131394559dup , CM000671.1:g.131394551_131394559dup	GRCh37
NC_000009.10:g.130434372_130434380dup	NCBI36
NG_027748.1:g.84715_84723dup
NG_034056.1:g.29582_29590dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000627441.3:c.6944_6952dup	ENSP00000486547.2:p.Leu2317_Gly2318insAsp...
ENST00000630866.2:c.6971_6979dup	ENSP00000487444.1:p.Leu2326_Gly2327insAsp...
ENST00000704202.1:c.6995_7003dup	ENSP00000515764.1:p.Leu2334_Gly2335insAsp...
ENST00000704203.1:c.6944_6952dup	ENSP00000515765.1:p.Leu2317_Gly2318insAsp...
ENST00000704204.1:c.6434_6442dup	ENSP00000515766.1:p.Leu2147_Gly2148insAsp...
ENST00000704206.1:c.4513_4521dup
ENST00000704207.1:c.2850_2858dup
ENST00000706487.1:c.6908_6916dup	ENSP00000516412.1:p.Leu2305_Gly2306insAsp...
ENST00000372739.7:c.6908_6916dup MANE Select	ENSP00000361824.4:p.Leu2305_Gly2306insAsp...
ENST00000636010.1:n.632_640dup
ENST00000358161.9:c.6833_6841dup	ENSP00000350882.6:p.Leu2280_Gly2281insAsp...
ENST00000372731.8:c.6893_6901dup	ENSP00000361816.4:p.Leu2300_Gly2301insAsp...
ENST00000372739.5:c.6908_6916dup	ENSP00000361824.3:p.Leu2305_Gly2306insAsp...
ENST00000625980.2:n.862_870dup
ENST00000630763.1:n.665_673dup
ENST00000630804.2:c.6848_6856dup	ENSP00000486308.1:p.Leu2285_Gly2286insAsp...
ENST00000630866.1:c.6971_6979dup	ENSP00000487444.1:p.Leu2326_Gly2327insAsp...
NM_001130438.2:c.6908_6916dup	NP_001123910.1:p.Leu2305_Gly2306insAspGln...
NM_001195532.1:c.6833_6841dup	NP_001182461.1:p.Leu2280_Gly2281insAspGln...
NM_003127.3:c.6893_6901dup	NP_003118.2:p.Leu2300_Gly2301insAspGlnLeu...
XM_006717245.1:c.7007_7015dup	XP_006717308.1:p.Leu2338_Gly2339insAspGln...
XM_006717246.1:c.6992_7000dup	XP_006717309.1:p.Leu2333_Gly2334insAspGln...
XM_006717247.1:c.6947_6955dup	XP_006717310.1:p.Leu2318_Gly2319insAspGln...
XM_006717248.1:c.6944_6952dup	XP_006717311.1:p.Leu2317_Gly2318insAspGln...
XM_006717249.1:c.6929_6937dup	XP_006717312.1:p.Leu2312_Gly2313insAspGln...
XM_006717250.1:c.6926_6934dup	XP_006717313.1:p.Leu2311_Gly2312insAspGln...
XM_006717251.1:c.6911_6919dup	XP_006717314.1:p.Leu2306_Gly2307insAspGln...
XM_006717252.1:c.6884_6892dup	XP_006717315.1:p.Leu2297_Gly2298insAspGln...
XM_006717253.1:c.6869_6877dup	XP_006717316.1:p.Leu2292_Gly2293insAspGln...
XM_006717254.1:c.6971_6979dup	XP_006717317.1:p.Leu2326_Gly2327insAspGln...
NM_001363759.1:c.6971_6979dup	NP_001350688.1:p.Leu2326_Gly2327insAspGln...
NM_001363765.1:c.6848_6856dup	NP_001350694.1:p.Leu2285_Gly2286insAspGln...
XM_006717247.2:c.6947_6955dup	XP_006717310.1:p.Leu2318_Gly2319insAspGln...
XM_006717248.2:c.6944_6952dup	XP_006717311.1:p.Leu2317_Gly2318insAspGln...
XM_006717251.2:c.6911_6919dup	XP_006717314.1:p.Leu2306_Gly2307insAspGln...
XM_006717252.3:c.6884_6892dup	XP_006717315.1:p.Leu2297_Gly2298insAspGln...
XM_017015059.1:c.6890_6898dup	XP_016870548.1:p.Leu2299_Gly2300insAspGln...
XM_017015060.1:c.6866_6874dup	XP_016870549.1:p.Leu2291_Gly2292insAspGln...
NM_001130438.3:c.6908_6916dup MANE Select	NP_001123910.1:p.Leu2305_Gly2306insAspGln...
NM_001195532.2:c.6833_6841dup	NP_001182461.1:p.Leu2280_Gly2281insAspGln...
NM_001363759.2:c.6971_6979dup	NP_001350688.1:p.Leu2326_Gly2327insAspGln...
NM_001363765.2:c.6848_6856dup	NP_001350694.1:p.Leu2285_Gly2286insAspGln...
NM_001375310.1:c.6995_7003dup	NP_001362239.1:p.Leu2334_Gly2335insAspGln...
NM_001375311.2:c.6908_6916dup	NP_001362240.1:p.Leu2305_Gly2306insAspGln...
NM_001375312.2:c.6944_6952dup	NP_001362241.2:p.Leu2317_Gly2318insAspGln...
NM_001375313.1:c.6890_6898dup	NP_001362242.1:p.Leu2299_Gly2300insAspGln...
NM_001375314.2:c.6848_6856dup	NP_001362243.1:p.Leu2285_Gly2286insAspGln...
NM_001375318.1:c.7007_7015dup	NP_001362247.1:p.Leu2338_Gly2339insAspGln...
NM_003127.4:c.6893_6901dup	NP_003118.2:p.Leu2300_Gly2301insAspGlnLeu...