Canonical Allele Identifier: CA915947578

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 648629
• ClinVar RCV Id: RCV000803395
• dbSNP Id: rs1589416130

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632207_128632212del , CM000671.2:g.128632207_128632212del	GRCh38
NC_000009.11:g.131394486_131394491del , CM000671.1:g.131394486_131394491del	GRCh37
NC_000009.10:g.130434307_130434312del	NCBI36
NG_027748.1:g.84650_84655del
NG_034056.1:g.29642_29647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6879_6884del	ENSP00000486547.2:p.Ile2294_Leu2295del
ENST00000630866.2:c.6906_6911del	ENSP00000487444.1:p.Ile2303_Leu2304del
ENST00000704202.1:c.6930_6935del	ENSP00000515764.1:p.Ile2311_Leu2312del
ENST00000704203.1:c.6879_6884del	ENSP00000515765.1:p.Ile2294_Leu2295del
ENST00000704204.1:c.6369_6374del	ENSP00000515766.1:p.Ile2124_Leu2125del
ENST00000704206.1:c.4448_4453del
ENST00000704207.1:c.2785_2790del
ENST00000706487.1:c.6843_6848del	ENSP00000516412.1:p.Ile2282_Leu2283del
ENST00000372739.7:c.6843_6848del MANE Select	ENSP00000361824.4:p.Ile2282_Leu2283del
ENST00000636010.1:n.567_572del
ENST00000358161.9:c.6768_6773del	ENSP00000350882.6:p.Ile2257_Leu2258del
ENST00000372731.8:c.6828_6833del	ENSP00000361816.4:p.Ile2277_Leu2278del
ENST00000372739.5:c.6843_6848del	ENSP00000361824.3:p.Ile2282_Leu2283del
ENST00000625980.2:n.797_802del
ENST00000630763.1:n.600_605del
ENST00000630804.2:c.6783_6788del	ENSP00000486308.1:p.Ile2262_Leu2263del
ENST00000630866.1:c.6906_6911del	ENSP00000487444.1:p.Ile2303_Leu2304del
NM_001130438.2:c.6843_6848del	NP_001123910.1:p.Ile2282_Leu2283del
NM_001195532.1:c.6768_6773del	NP_001182461.1:p.Ile2257_Leu2258del
NM_003127.3:c.6828_6833del	NP_003118.2:p.Ile2277_Leu2278del
XM_006717245.1:c.6942_6947del	XP_006717308.1:p.Ile2315_Leu2316del
XM_006717246.1:c.6927_6932del	XP_006717309.1:p.Ile2310_Leu2311del
XM_006717247.1:c.6882_6887del	XP_006717310.1:p.Ile2295_Leu2296del
XM_006717248.1:c.6879_6884del	XP_006717311.1:p.Ile2294_Leu2295del
XM_006717249.1:c.6864_6869del	XP_006717312.1:p.Ile2289_Leu2290del
XM_006717250.1:c.6861_6866del	XP_006717313.1:p.Ile2288_Leu2289del
XM_006717251.1:c.6846_6851del	XP_006717314.1:p.Ile2283_Leu2284del
XM_006717252.1:c.6819_6824del	XP_006717315.1:p.Ile2274_Leu2275del
XM_006717253.1:c.6804_6809del	XP_006717316.1:p.Ile2269_Leu2270del
XM_006717254.1:c.6906_6911del	XP_006717317.1:p.Ile2303_Leu2304del
NM_001363759.1:c.6906_6911del	NP_001350688.1:p.Ile2303_Leu2304del
NM_001363765.1:c.6783_6788del	NP_001350694.1:p.Ile2262_Leu2263del
XM_006717247.2:c.6882_6887del	XP_006717310.1:p.Ile2295_Leu2296del
XM_006717248.2:c.6879_6884del	XP_006717311.1:p.Ile2294_Leu2295del
XM_006717251.2:c.6846_6851del	XP_006717314.1:p.Ile2283_Leu2284del
XM_006717252.3:c.6819_6824del	XP_006717315.1:p.Ile2274_Leu2275del
XM_017015059.1:c.6825_6830del	XP_016870548.1:p.Ile2276_Leu2277del
XM_017015060.1:c.6801_6806del	XP_016870549.1:p.Ile2268_Leu2269del
NM_001130438.3:c.6843_6848del MANE Select	NP_001123910.1:p.Ile2282_Leu2283del
NM_001195532.2:c.6768_6773del	NP_001182461.1:p.Ile2257_Leu2258del
NM_001363759.2:c.6906_6911del	NP_001350688.1:p.Ile2303_Leu2304del
NM_001363765.2:c.6783_6788del	NP_001350694.1:p.Ile2262_Leu2263del
NM_001375310.1:c.6930_6935del	NP_001362239.1:p.Ile2311_Leu2312del
NM_001375311.2:c.6843_6848del	NP_001362240.1:p.Ile2282_Leu2283del
NM_001375312.2:c.6879_6884del	NP_001362241.2:p.Ile2294_Leu2295del
NM_001375313.1:c.6825_6830del	NP_001362242.1:p.Ile2276_Leu2277del
NM_001375314.2:c.6783_6788del	NP_001362243.1:p.Ile2262_Leu2263del
NM_001375318.1:c.6942_6947del	NP_001362247.1:p.Ile2315_Leu2316del
NM_003127.4:c.6828_6833del	NP_003118.2:p.Ile2277_Leu2278del