Canonical Allele Identifier: CA2579470529

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 1254403
• ClinVar RCV Id: RCV001665328
• dbSNP Id: rs2132088873

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632219_128632221del , CM000671.2:g.128632219_128632221del	GRCh38
NC_000009.11:g.131394498_131394500del , CM000671.1:g.131394498_131394500del	GRCh37
NC_000009.10:g.130434319_130434321del	NCBI36
NG_027748.1:g.84662_84664del
NG_034056.1:g.29634_29636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6891_6893del	ENSP00000486547.2:p.Asn2297del
ENST00000630866.2:c.6918_6920del	ENSP00000487444.1:p.Asn2306del
ENST00000704202.1:c.6942_6944del	ENSP00000515764.1:p.Asn2314del
ENST00000704203.1:c.6891_6893del	ENSP00000515765.1:p.Asn2297del
ENST00000704204.1:c.6381_6383del	ENSP00000515766.1:p.Asn2127del
ENST00000704206.1:c.4460_4462del
ENST00000704207.1:c.2797_2799del
ENST00000706487.1:c.6855_6857del	ENSP00000516412.1:p.Asn2285del
ENST00000372739.7:c.6855_6857del MANE Select	ENSP00000361824.4:p.Asn2285del
ENST00000636010.1:n.579_581del
ENST00000358161.9:c.6780_6782del	ENSP00000350882.6:p.Asn2260del
ENST00000372731.8:c.6840_6842del	ENSP00000361816.4:p.Asn2280del
ENST00000372739.5:c.6855_6857del	ENSP00000361824.3:p.Asn2285del
ENST00000625980.2:n.809_811del
ENST00000630763.1:n.612_614del
ENST00000630804.2:c.6795_6797del	ENSP00000486308.1:p.Asn2265del
ENST00000630866.1:c.6918_6920del	ENSP00000487444.1:p.Asn2306del
NM_001130438.2:c.6855_6857del	NP_001123910.1:p.Asn2285del
NM_001195532.1:c.6780_6782del	NP_001182461.1:p.Asn2260del
NM_003127.3:c.6840_6842del	NP_003118.2:p.Asn2280del
XM_006717245.1:c.6954_6956del	XP_006717308.1:p.Asn2318del
XM_006717246.1:c.6939_6941del	XP_006717309.1:p.Asn2313del
XM_006717247.1:c.6894_6896del	XP_006717310.1:p.Asn2298del
XM_006717248.1:c.6891_6893del	XP_006717311.1:p.Asn2297del
XM_006717249.1:c.6876_6878del	XP_006717312.1:p.Asn2292del
XM_006717250.1:c.6873_6875del	XP_006717313.1:p.Asn2291del
XM_006717251.1:c.6858_6860del	XP_006717314.1:p.Asn2286del
XM_006717252.1:c.6831_6833del	XP_006717315.1:p.Asn2277del
XM_006717253.1:c.6816_6818del	XP_006717316.1:p.Asn2272del
XM_006717254.1:c.6918_6920del	XP_006717317.1:p.Asn2306del
NM_001363759.1:c.6918_6920del	NP_001350688.1:p.Asn2306del
NM_001363765.1:c.6795_6797del	NP_001350694.1:p.Asn2265del
XM_006717247.2:c.6894_6896del	XP_006717310.1:p.Asn2298del
XM_006717248.2:c.6891_6893del	XP_006717311.1:p.Asn2297del
XM_006717251.2:c.6858_6860del	XP_006717314.1:p.Asn2286del
XM_006717252.3:c.6831_6833del	XP_006717315.1:p.Asn2277del
XM_017015059.1:c.6837_6839del	XP_016870548.1:p.Asn2279del
XM_017015060.1:c.6813_6815del	XP_016870549.1:p.Asn2271del
NM_001130438.3:c.6855_6857del MANE Select	NP_001123910.1:p.Asn2285del
NM_001195532.2:c.6780_6782del	NP_001182461.1:p.Asn2260del
NM_001363759.2:c.6918_6920del	NP_001350688.1:p.Asn2306del
NM_001363765.2:c.6795_6797del	NP_001350694.1:p.Asn2265del
NM_001375310.1:c.6942_6944del	NP_001362239.1:p.Asn2314del
NM_001375311.2:c.6855_6857del	NP_001362240.1:p.Asn2285del
NM_001375312.2:c.6891_6893del	NP_001362241.2:p.Asn2297del
NM_001375313.1:c.6837_6839del	NP_001362242.1:p.Asn2279del
NM_001375314.2:c.6795_6797del	NP_001362243.1:p.Asn2265del
NM_001375318.1:c.6954_6956del	NP_001362247.1:p.Asn2318del
NM_003127.4:c.6840_6842del	NP_003118.2:p.Asn2280del