Canonical Allele Identifier: CA2691941339

Gene: SPTAN1

Linked Data

• gnomAD v4: 9-128632259-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632262del , CM000671.2:g.128632262del	GRCh38
NC_000009.11:g.131394541del , CM000671.1:g.131394541del	GRCh37
NC_000009.10:g.130434362del	NCBI36
NG_027748.1:g.84705del
NG_034056.1:g.29591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6934del	ENSP00000486547.2:p.Asp2312ThrfsTer26
ENST00000630866.2:c.6961del	ENSP00000487444.1:p.Asp2321ThrfsTer26
ENST00000704202.1:c.6985del	ENSP00000515764.1:p.Asp2329ThrfsTer26
ENST00000704203.1:c.6934del	ENSP00000515765.1:p.Asp2312ThrfsTer26
ENST00000704204.1:c.6424del	ENSP00000515766.1:p.Asp2142ThrfsTer26
ENST00000704206.1:c.4503del
ENST00000704207.1:c.2840del
ENST00000706487.1:c.6898del	ENSP00000516412.1:p.Asp2300ThrfsTer26
ENST00000372739.7:c.6898del MANE Select	ENSP00000361824.4:p.Asp2300ThrfsTer26
ENST00000636010.1:n.622del
ENST00000358161.9:c.6823del	ENSP00000350882.6:p.Asp2275ThrfsTer26
ENST00000372731.8:c.6883del	ENSP00000361816.4:p.Asp2295ThrfsTer26
ENST00000372739.5:c.6898del	ENSP00000361824.3:p.Asp2300ThrfsTer26
ENST00000625980.2:n.852del
ENST00000630763.1:n.655del
ENST00000630804.2:c.6838del	ENSP00000486308.1:p.Asp2280ThrfsTer26
ENST00000630866.1:c.6961del	ENSP00000487444.1:p.Asp2321ThrfsTer26
NM_001130438.2:c.6898del	NP_001123910.1:p.Asp2300ThrfsTer26
NM_001195532.1:c.6823del	NP_001182461.1:p.Asp2275ThrfsTer26
NM_003127.3:c.6883del	NP_003118.2:p.Asp2295ThrfsTer26
XM_006717245.1:c.6997del	XP_006717308.1:p.Asp2333ThrfsTer26
XM_006717246.1:c.6982del	XP_006717309.1:p.Asp2328ThrfsTer26
XM_006717247.1:c.6937del	XP_006717310.1:p.Asp2313ThrfsTer26
XM_006717248.1:c.6934del	XP_006717311.1:p.Asp2312ThrfsTer26
XM_006717249.1:c.6919del	XP_006717312.1:p.Asp2307ThrfsTer26
XM_006717250.1:c.6916del	XP_006717313.1:p.Asp2306ThrfsTer26
XM_006717251.1:c.6901del	XP_006717314.1:p.Asp2301ThrfsTer26
XM_006717252.1:c.6874del	XP_006717315.1:p.Asp2292ThrfsTer26
XM_006717253.1:c.6859del	XP_006717316.1:p.Asp2287ThrfsTer26
XM_006717254.1:c.6961del	XP_006717317.1:p.Asp2321ThrfsTer26
NM_001363759.1:c.6961del	NP_001350688.1:p.Asp2321ThrfsTer26
NM_001363765.1:c.6838del	NP_001350694.1:p.Asp2280ThrfsTer26
XM_006717247.2:c.6937del	XP_006717310.1:p.Asp2313ThrfsTer26
XM_006717248.2:c.6934del	XP_006717311.1:p.Asp2312ThrfsTer26
XM_006717251.2:c.6901del	XP_006717314.1:p.Asp2301ThrfsTer26
XM_006717252.3:c.6874del	XP_006717315.1:p.Asp2292ThrfsTer26
XM_017015059.1:c.6880del	XP_016870548.1:p.Asp2294ThrfsTer26
XM_017015060.1:c.6856del	XP_016870549.1:p.Asp2286ThrfsTer26
NM_001130438.3:c.6898del MANE Select	NP_001123910.1:p.Asp2300ThrfsTer26
NM_001195532.2:c.6823del	NP_001182461.1:p.Asp2275ThrfsTer26
NM_001363759.2:c.6961del	NP_001350688.1:p.Asp2321ThrfsTer26
NM_001363765.2:c.6838del	NP_001350694.1:p.Asp2280ThrfsTer26
NM_001375310.1:c.6985del	NP_001362239.1:p.Asp2329ThrfsTer26
NM_001375311.2:c.6898del	NP_001362240.1:p.Asp2300ThrfsTer26
NM_001375312.2:c.6934del	NP_001362241.2:p.Asp2312ThrfsTer26
NM_001375313.1:c.6880del	NP_001362242.1:p.Asp2294ThrfsTer26
NM_001375314.2:c.6838del	NP_001362243.1:p.Asp2280ThrfsTer26
NM_001375318.1:c.6997del	NP_001362247.1:p.Asp2333ThrfsTer26
NM_003127.4:c.6883del	NP_003118.2:p.Asp2295ThrfsTer26