Canonical Allele Identifier: CA913184751

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 1325794
• ClinVar RCV Id: RCV001785331
• dbSNP Id: rs2132088836

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632214_128632216del , CM000671.2:g.128632214_128632216del	GRCh38
NC_000009.11:g.131394493_131394495del , CM000671.1:g.131394493_131394495del	GRCh37
NC_000009.10:g.130434314_130434316del	NCBI36
NG_027748.1:g.84657_84659del
NG_034056.1:g.29635_29637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6886_6888del	ENSP00000486547.2:p.Asp2296del
ENST00000630866.2:c.6913_6915del	ENSP00000487444.1:p.Asp2305del
ENST00000704202.1:c.6937_6939del	ENSP00000515764.1:p.Asp2313del
ENST00000704203.1:c.6886_6888del	ENSP00000515765.1:p.Asp2296del
ENST00000704204.1:c.6376_6378del	ENSP00000515766.1:p.Asp2126del
ENST00000704206.1:c.4455_4457del
ENST00000704207.1:c.2792_2794del
ENST00000706487.1:c.6850_6852del	ENSP00000516412.1:p.Asp2284del
ENST00000372739.7:c.6850_6852del MANE Select	ENSP00000361824.4:p.Asp2284del
ENST00000636010.1:n.574_576del
ENST00000358161.9:c.6775_6777del	ENSP00000350882.6:p.Asp2259del
ENST00000372731.8:c.6835_6837del	ENSP00000361816.4:p.Asp2279del
ENST00000372739.5:c.6850_6852del	ENSP00000361824.3:p.Asp2284del
ENST00000625980.2:n.804_806del
ENST00000630763.1:n.607_609del
ENST00000630804.2:c.6790_6792del	ENSP00000486308.1:p.Asp2264del
ENST00000630866.1:c.6913_6915del	ENSP00000487444.1:p.Asp2305del
NM_001130438.2:c.6850_6852del	NP_001123910.1:p.Asp2284del
NM_001195532.1:c.6775_6777del	NP_001182461.1:p.Asp2259del
NM_003127.3:c.6835_6837del	NP_003118.2:p.Asp2279del
XM_006717245.1:c.6949_6951del	XP_006717308.1:p.Asp2317del
XM_006717246.1:c.6934_6936del	XP_006717309.1:p.Asp2312del
XM_006717247.1:c.6889_6891del	XP_006717310.1:p.Asp2297del
XM_006717248.1:c.6886_6888del	XP_006717311.1:p.Asp2296del
XM_006717249.1:c.6871_6873del	XP_006717312.1:p.Asp2291del
XM_006717250.1:c.6868_6870del	XP_006717313.1:p.Asp2290del
XM_006717251.1:c.6853_6855del	XP_006717314.1:p.Asp2285del
XM_006717252.1:c.6826_6828del	XP_006717315.1:p.Asp2276del
XM_006717253.1:c.6811_6813del	XP_006717316.1:p.Asp2271del
XM_006717254.1:c.6913_6915del	XP_006717317.1:p.Asp2305del
NM_001363759.1:c.6913_6915del	NP_001350688.1:p.Asp2305del
NM_001363765.1:c.6790_6792del	NP_001350694.1:p.Asp2264del
XM_006717247.2:c.6889_6891del	XP_006717310.1:p.Asp2297del
XM_006717248.2:c.6886_6888del	XP_006717311.1:p.Asp2296del
XM_006717251.2:c.6853_6855del	XP_006717314.1:p.Asp2285del
XM_006717252.3:c.6826_6828del	XP_006717315.1:p.Asp2276del
XM_017015059.1:c.6832_6834del	XP_016870548.1:p.Asp2278del
XM_017015060.1:c.6808_6810del	XP_016870549.1:p.Asp2270del
NM_001130438.3:c.6850_6852del MANE Select	NP_001123910.1:p.Asp2284del
NM_001195532.2:c.6775_6777del	NP_001182461.1:p.Asp2259del
NM_001363759.2:c.6913_6915del	NP_001350688.1:p.Asp2305del
NM_001363765.2:c.6790_6792del	NP_001350694.1:p.Asp2264del
NM_001375310.1:c.6937_6939del	NP_001362239.1:p.Asp2313del
NM_001375311.2:c.6850_6852del	NP_001362240.1:p.Asp2284del
NM_001375312.2:c.6886_6888del	NP_001362241.2:p.Asp2296del
NM_001375313.1:c.6832_6834del	NP_001362242.1:p.Asp2278del
NM_001375314.2:c.6790_6792del	NP_001362243.1:p.Asp2264del
NM_001375318.1:c.6949_6951del	NP_001362247.1:p.Asp2317del
NM_003127.4:c.6835_6837del	NP_003118.2:p.Asp2279del