Canonical Allele Identifier: CA1880371261
Gene: SPTAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632260_128632269delinsGGGACCAGCT , CM000671.2:g.128632260_128632269delinsGGGACCAGCT GRCh38
NC_000009.11:g.131394539_131394548delinsGGGACCAGCT , CM000671.1:g.131394539_131394548delinsGGGACCAGCT GRCh37
NC_000009.10:g.130434360_130434369delinsGGGACCAGCT NCBI36
NG_027748.1:g.84703_84712delinsGGGACCAGCT
NG_034056.1:g.29582_29591delinsAGCTGGTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.6932_6941delinsGGGACCAGCT ENSP00000486547.2:p.Trp2311=
ENST00000630866.2:c.6959_6968delinsGGGACCAGCT ENSP00000487444.1:p.Trp2320=
ENST00000704202.1:c.6983_6992delinsGGGACCAGCT ENSP00000515764.1:p.Trp2328=
ENST00000704203.1:c.6932_6941delinsGGGACCAGCT ENSP00000515765.1:p.Trp2311=
ENST00000704204.1:c.6422_6431delinsGGGACCAGCT ENSP00000515766.1:p.Trp2141=
ENST00000704206.1:c.4501_4510delinsGGGACCAGCT
ENST00000704207.1:c.2838_2847delinsGGGACCAGCT
ENST00000706487.1:c.6896_6905delinsGGGACCAGCT ENSP00000516412.1:p.Trp2299=
ENST00000372739.7:c.6896_6905delinsGGGACCAGCT MANE Select ENSP00000361824.4:p.Trp2299=
ENST00000636010.1:n.620_629delinsGGGACCAGCT
ENST00000358161.9:c.6821_6830delinsGGGACCAGCT ENSP00000350882.6:p.Trp2274=
ENST00000372731.8:c.6881_6890delinsGGGACCAGCT ENSP00000361816.4:p.Trp2294=
ENST00000372739.5:c.6896_6905delinsGGGACCAGCT ENSP00000361824.3:p.Trp2299=
ENST00000625980.2:n.850_859delinsGGGACCAGCT
ENST00000630763.1:n.653_662delinsGGGACCAGCT
ENST00000630804.2:c.6836_6845delinsGGGACCAGCT ENSP00000486308.1:p.Trp2279=
ENST00000630866.1:c.6959_6968delinsGGGACCAGCT ENSP00000487444.1:p.Trp2320=
NM_001130438.2:c.6896_6905delinsGGGACCAGCT NP_001123910.1:p.Trp2299=
NM_001195532.1:c.6821_6830delinsGGGACCAGCT NP_001182461.1:p.Trp2274=
NM_003127.3:c.6881_6890delinsGGGACCAGCT NP_003118.2:p.Trp2294=
XM_006717245.1:c.6995_7004delinsGGGACCAGCT XP_006717308.1:p.Trp2332=
XM_006717246.1:c.6980_6989delinsGGGACCAGCT XP_006717309.1:p.Trp2327=
XM_006717247.1:c.6935_6944delinsGGGACCAGCT XP_006717310.1:p.Trp2312=
XM_006717248.1:c.6932_6941delinsGGGACCAGCT XP_006717311.1:p.Trp2311=
XM_006717249.1:c.6917_6926delinsGGGACCAGCT XP_006717312.1:p.Trp2306=
XM_006717250.1:c.6914_6923delinsGGGACCAGCT XP_006717313.1:p.Trp2305=
XM_006717251.1:c.6899_6908delinsGGGACCAGCT XP_006717314.1:p.Trp2300=
XM_006717252.1:c.6872_6881delinsGGGACCAGCT XP_006717315.1:p.Trp2291=
XM_006717253.1:c.6857_6866delinsGGGACCAGCT XP_006717316.1:p.Trp2286=
XM_006717254.1:c.6959_6968delinsGGGACCAGCT XP_006717317.1:p.Trp2320=
NM_001363759.1:c.6959_6968delinsGGGACCAGCT NP_001350688.1:p.Trp2320=
NM_001363765.1:c.6836_6845delinsGGGACCAGCT NP_001350694.1:p.Trp2279=
XM_006717247.2:c.6935_6944delinsGGGACCAGCT XP_006717310.1:p.Trp2312=
XM_006717248.2:c.6932_6941delinsGGGACCAGCT XP_006717311.1:p.Trp2311=
XM_006717251.2:c.6899_6908delinsGGGACCAGCT XP_006717314.1:p.Trp2300=
XM_006717252.3:c.6872_6881delinsGGGACCAGCT XP_006717315.1:p.Trp2291=
XM_017015059.1:c.6878_6887delinsGGGACCAGCT XP_016870548.1:p.Trp2293=
XM_017015060.1:c.6854_6863delinsGGGACCAGCT XP_016870549.1:p.Trp2285=
NM_001130438.3:c.6896_6905delinsGGGACCAGCT MANE Select NP_001123910.1:p.Trp2299=
NM_001195532.2:c.6821_6830delinsGGGACCAGCT NP_001182461.1:p.Trp2274=
NM_001363759.2:c.6959_6968delinsGGGACCAGCT NP_001350688.1:p.Trp2320=
NM_001363765.2:c.6836_6845delinsGGGACCAGCT NP_001350694.1:p.Trp2279=
NM_001375310.1:c.6983_6992delinsGGGACCAGCT NP_001362239.1:p.Trp2328=
NM_001375311.2:c.6896_6905delinsGGGACCAGCT NP_001362240.1:p.Trp2299=
NM_001375312.2:c.6932_6941delinsGGGACCAGCT NP_001362241.2:p.Trp2311=
NM_001375313.1:c.6878_6887delinsGGGACCAGCT NP_001362242.1:p.Trp2293=
NM_001375314.2:c.6836_6845delinsGGGACCAGCT NP_001362243.1:p.Trp2279=
NM_001375318.1:c.6995_7004delinsGGGACCAGCT NP_001362247.1:p.Trp2332=
NM_003127.4:c.6881_6890delinsGGGACCAGCT NP_003118.2:p.Trp2294=