Canonical Allele Identifier: CA318788

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 207380
• ClinVar RCV Id: RCV000189555 ; RCV000416957 ; RCV001420284 ; RCV001781558 ; RCV001852513 ; RCV003335186
• dbSNP Id: rs587784440
• MyVariant Identifiers: chr9:g.131394551_131394559del (hg19) ; chr9:g.128632272_128632280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632272_128632280del , CM000671.2:g.128632272_128632280del	GRCh38
NC_000009.11:g.131394551_131394559del , CM000671.1:g.131394551_131394559del	GRCh37
NC_000009.10:g.130434372_130434380del	NCBI36
NG_027748.1:g.84715_84723del
NG_034056.1:g.29582_29590del

Transcript Alleles

HGVS	Amino-acid change
ENST00000627441.3:c.6944_6952del	ENSP00000486547.2:p.Asp2315_Leu2317del
ENST00000630866.2:c.6971_6979del	ENSP00000487444.1:p.Asp2324_Leu2326del
ENST00000704202.1:c.6995_7003del	ENSP00000515764.1:p.Asp2332_Leu2334del
ENST00000704203.1:c.6944_6952del	ENSP00000515765.1:p.Asp2315_Leu2317del
ENST00000704204.1:c.6434_6442del	ENSP00000515766.1:p.Asp2145_Leu2147del
ENST00000704206.1:c.4513_4521del
ENST00000704207.1:c.2850_2858del
ENST00000706487.1:c.6908_6916del	ENSP00000516412.1:p.Asp2303_Leu2305del
ENST00000372739.7:c.6908_6916del MANE Select	ENSP00000361824.4:p.Asp2303_Leu2305del
ENST00000636010.1:n.632_640del
ENST00000358161.9:c.6833_6841del	ENSP00000350882.6:p.Asp2278_Leu2280del
ENST00000372731.8:c.6893_6901del	ENSP00000361816.4:p.Asp2298_Leu2300del
ENST00000372739.5:c.6908_6916del	ENSP00000361824.3:p.Asp2303_Leu2305del
ENST00000625980.2:n.862_870del
ENST00000630763.1:n.665_673del
ENST00000630804.2:c.6848_6856del	ENSP00000486308.1:p.Asp2283_Leu2285del
ENST00000630866.1:c.6971_6979del	ENSP00000487444.1:p.Asp2324_Leu2326del
NM_001130438.2:c.6908_6916del	NP_001123910.1:p.Asp2303_Leu2305del
NM_001195532.1:c.6833_6841del	NP_001182461.1:p.Asp2278_Leu2280del
NM_003127.3:c.6893_6901del	NP_003118.2:p.Asp2298_Leu2300del
XM_006717245.1:c.7007_7015del	XP_006717308.1:p.Asp2336_Leu2338del
XM_006717246.1:c.6992_7000del	XP_006717309.1:p.Asp2331_Leu2333del
XM_006717247.1:c.6947_6955del	XP_006717310.1:p.Asp2316_Leu2318del
XM_006717248.1:c.6944_6952del	XP_006717311.1:p.Asp2315_Leu2317del
XM_006717249.1:c.6929_6937del	XP_006717312.1:p.Asp2310_Leu2312del
XM_006717250.1:c.6926_6934del	XP_006717313.1:p.Asp2309_Leu2311del
XM_006717251.1:c.6911_6919del	XP_006717314.1:p.Asp2304_Leu2306del
XM_006717252.1:c.6884_6892del	XP_006717315.1:p.Asp2295_Leu2297del
XM_006717253.1:c.6869_6877del	XP_006717316.1:p.Asp2290_Leu2292del
XM_006717254.1:c.6971_6979del	XP_006717317.1:p.Asp2324_Leu2326del
NM_001363759.1:c.6971_6979del	NP_001350688.1:p.Asp2324_Leu2326del
NM_001363765.1:c.6848_6856del	NP_001350694.1:p.Asp2283_Leu2285del
XM_006717247.2:c.6947_6955del	XP_006717310.1:p.Asp2316_Leu2318del
XM_006717248.2:c.6944_6952del	XP_006717311.1:p.Asp2315_Leu2317del
XM_006717251.2:c.6911_6919del	XP_006717314.1:p.Asp2304_Leu2306del
XM_006717252.3:c.6884_6892del	XP_006717315.1:p.Asp2295_Leu2297del
XM_017015059.1:c.6890_6898del	XP_016870548.1:p.Asp2297_Leu2299del
XM_017015060.1:c.6866_6874del	XP_016870549.1:p.Asp2289_Leu2291del
NM_001130438.3:c.6908_6916del MANE Select	NP_001123910.1:p.Asp2303_Leu2305del
NM_001195532.2:c.6833_6841del	NP_001182461.1:p.Asp2278_Leu2280del
NM_001363759.2:c.6971_6979del	NP_001350688.1:p.Asp2324_Leu2326del
NM_001363765.2:c.6848_6856del	NP_001350694.1:p.Asp2283_Leu2285del
NM_001375310.1:c.6995_7003del	NP_001362239.1:p.Asp2332_Leu2334del
NM_001375311.2:c.6908_6916del	NP_001362240.1:p.Asp2303_Leu2305del
NM_001375312.2:c.6944_6952del	NP_001362241.2:p.Asp2315_Leu2317del
NM_001375313.1:c.6890_6898del	NP_001362242.1:p.Asp2297_Leu2299del
NM_001375314.2:c.6848_6856del	NP_001362243.1:p.Asp2283_Leu2285del
NM_001375318.1:c.7007_7015del	NP_001362247.1:p.Asp2336_Leu2338del
NM_003127.4:c.6893_6901del	NP_003118.2:p.Asp2298_Leu2300del