Canonical Allele Identifier: CA2786021637

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632200_128632202del , CM000671.2:g.128632200_128632202del	GRCh38
NC_000009.11:g.131394479_131394481del , CM000671.1:g.131394479_131394481del	GRCh37
NC_000009.10:g.130434300_130434302del	NCBI36
NG_027748.1:g.84643_84645del
NG_034056.1:g.29654_29656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6872_6874del	ENSP00000486547.2:p.Glu2291del
ENST00000630866.2:c.6899_6901del	ENSP00000487444.1:p.Glu2300del
ENST00000704202.1:c.6923_6925del	ENSP00000515764.1:p.Glu2308del
ENST00000704203.1:c.6872_6874del	ENSP00000515765.1:p.Glu2291del
ENST00000704204.1:c.6362_6364del	ENSP00000515766.1:p.Glu2121del
ENST00000704206.1:c.4441_4443del
ENST00000704207.1:c.2778_2780del
ENST00000706487.1:c.6836_6838del	ENSP00000516412.1:p.Glu2279del
ENST00000372739.7:c.6836_6838del MANE Select	ENSP00000361824.4:p.Glu2279del
ENST00000636010.1:n.560_562del
ENST00000358161.9:c.6761_6763del	ENSP00000350882.6:p.Glu2254del
ENST00000372731.8:c.6821_6823del	ENSP00000361816.4:p.Glu2274del
ENST00000372739.5:c.6836_6838del	ENSP00000361824.3:p.Glu2279del
ENST00000625980.2:n.790_792del
ENST00000630763.1:n.593_595del
ENST00000630804.2:c.6776_6778del	ENSP00000486308.1:p.Glu2259del
ENST00000630866.1:c.6899_6901del	ENSP00000487444.1:p.Glu2300del
NM_001130438.2:c.6836_6838del	NP_001123910.1:p.Glu2279del
NM_001195532.1:c.6761_6763del	NP_001182461.1:p.Glu2254del
NM_003127.3:c.6821_6823del	NP_003118.2:p.Glu2274del
XM_006717245.1:c.6935_6937del	XP_006717308.1:p.Glu2312del
XM_006717246.1:c.6920_6922del	XP_006717309.1:p.Glu2307del
XM_006717247.1:c.6875_6877del	XP_006717310.1:p.Glu2292del
XM_006717248.1:c.6872_6874del	XP_006717311.1:p.Glu2291del
XM_006717249.1:c.6857_6859del	XP_006717312.1:p.Glu2286del
XM_006717250.1:c.6854_6856del	XP_006717313.1:p.Glu2285del
XM_006717251.1:c.6839_6841del	XP_006717314.1:p.Glu2280del
XM_006717252.1:c.6812_6814del	XP_006717315.1:p.Glu2271del
XM_006717253.1:c.6797_6799del	XP_006717316.1:p.Glu2266del
XM_006717254.1:c.6899_6901del	XP_006717317.1:p.Glu2300del
NM_001363759.1:c.6899_6901del	NP_001350688.1:p.Glu2300del
NM_001363765.1:c.6776_6778del	NP_001350694.1:p.Glu2259del
XM_006717247.2:c.6875_6877del	XP_006717310.1:p.Glu2292del
XM_006717248.2:c.6872_6874del	XP_006717311.1:p.Glu2291del
XM_006717251.2:c.6839_6841del	XP_006717314.1:p.Glu2280del
XM_006717252.3:c.6812_6814del	XP_006717315.1:p.Glu2271del
XM_017015059.1:c.6818_6820del	XP_016870548.1:p.Glu2273del
XM_017015060.1:c.6794_6796del	XP_016870549.1:p.Glu2265del
NM_001130438.3:c.6836_6838del MANE Select	NP_001123910.1:p.Glu2279del
NM_001195532.2:c.6761_6763del	NP_001182461.1:p.Glu2254del
NM_001363759.2:c.6899_6901del	NP_001350688.1:p.Glu2300del
NM_001363765.2:c.6776_6778del	NP_001350694.1:p.Glu2259del
NM_001375310.1:c.6923_6925del	NP_001362239.1:p.Glu2308del
NM_001375311.2:c.6836_6838del	NP_001362240.1:p.Glu2279del
NM_001375312.2:c.6872_6874del	NP_001362241.2:p.Glu2291del
NM_001375313.1:c.6818_6820del	NP_001362242.1:p.Glu2273del
NM_001375314.2:c.6776_6778del	NP_001362243.1:p.Glu2259del
NM_001375318.1:c.6935_6937del	NP_001362247.1:p.Glu2312del
NM_003127.4:c.6821_6823del	NP_003118.2:p.Glu2274del