Canonical Allele Identifier: CA129923

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 35483
• ClinVar RCV Id: RCV000029155 ; RCV000657889
• dbSNP Id: rs398122865
• MyVariant Identifiers: chr9:g.131389693_131389695del (hg19) ; chr9:g.128627414_128627416del (hg38)
• PubMed: PMID:20493457 ; PMID:22258530

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128627414_128627416del , CM000671.2:g.128627414_128627416del	GRCh38
NC_000009.11:g.131389693_131389695del , CM000671.1:g.131389693_131389695del	GRCh37
NC_000009.10:g.130429514_130429516del	NCBI36
NG_027748.1:g.79857_79859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6641_6643del	ENSP00000486547.2:p.Gln2214del
ENST00000630866.2:c.6605_6607del	ENSP00000487444.1:p.Gln2202del
ENST00000704202.1:c.6692_6694del	ENSP00000515764.1:p.Gln2231del
ENST00000704203.1:c.6641_6643del	ENSP00000515765.1:p.Gln2214del
ENST00000704204.1:c.6068_6070del	ENSP00000515766.1:p.Gln2023del
ENST00000704206.1:c.4228_4230del
ENST00000704207.1:c.2547_2549del
ENST00000706487.1:c.6605_6607del	ENSP00000516412.1:p.Gln2202del
ENST00000372739.7:c.6605_6607del MANE Select	ENSP00000361824.4:p.Gln2202del
ENST00000358161.9:c.6530_6532del	ENSP00000350882.6:p.Gln2177del
ENST00000372731.8:c.6590_6592del	ENSP00000361816.4:p.Gln2197del
ENST00000372739.5:c.6605_6607del	ENSP00000361824.3:p.Gln2202del
ENST00000628614.1:n.382_384del
ENST00000629089.1:n.343_345del
ENST00000630804.2:c.6545_6547del	ENSP00000486308.1:p.Gln2182del
ENST00000630866.1:c.6605_6607del	ENSP00000487444.1:p.Gln2202del
NM_001130438.2:c.6605_6607del	NP_001123910.1:p.Gln2202del
NM_001195532.1:c.6530_6532del	NP_001182461.1:p.Gln2177del
NM_003127.3:c.6590_6592del	NP_003118.2:p.Gln2197del
XM_006717245.1:c.6641_6643del	XP_006717308.1:p.Gln2214del
XM_006717246.1:c.6626_6628del	XP_006717309.1:p.Gln2209del
XM_006717247.1:c.6581_6583del	XP_006717310.1:p.Gln2194del
XM_006717248.1:c.6641_6643del	XP_006717311.1:p.Gln2214del
XM_006717249.1:c.6626_6628del	XP_006717312.1:p.Gln2209del
XM_006717250.1:c.6641_6643del	XP_006717313.1:p.Gln2214del
XM_006717251.1:c.6545_6547del	XP_006717314.1:p.Gln2182del
XM_006717252.1:c.6581_6583del	XP_006717315.1:p.Gln2194del
XM_006717253.1:c.6566_6568del	XP_006717316.1:p.Gln2189del
XM_006717254.1:c.6605_6607del	XP_006717317.1:p.Gln2202del
NM_001363759.1:c.6605_6607del	NP_001350688.1:p.Gln2202del
NM_001363765.1:c.6545_6547del	NP_001350694.1:p.Gln2182del
XM_006717247.2:c.6581_6583del	XP_006717310.1:p.Gln2194del
XM_006717248.2:c.6641_6643del	XP_006717311.1:p.Gln2214del
XM_006717251.2:c.6545_6547del	XP_006717314.1:p.Gln2182del
XM_006717252.3:c.6581_6583del	XP_006717315.1:p.Gln2194del
XM_017015059.1:c.6605_6607del	XP_016870548.1:p.Gln2202del
XM_017015060.1:c.6581_6583del	XP_016870549.1:p.Gln2194del
NM_001130438.3:c.6605_6607del MANE Select	NP_001123910.1:p.Gln2202del
NM_001195532.2:c.6530_6532del	NP_001182461.1:p.Gln2177del
NM_001363759.2:c.6605_6607del	NP_001350688.1:p.Gln2202del
NM_001363765.2:c.6545_6547del	NP_001350694.1:p.Gln2182del
NM_001375310.1:c.6692_6694del	NP_001362239.1:p.Gln2231del
NM_001375311.2:c.6605_6607del	NP_001362240.1:p.Gln2202del
NM_001375312.2:c.6641_6643del	NP_001362241.2:p.Gln2214del
NM_001375313.1:c.6605_6607del	NP_001362242.1:p.Gln2202del
NM_001375314.2:c.6545_6547del	NP_001362243.1:p.Gln2182del
NM_001375318.1:c.6641_6643del	NP_001362247.1:p.Gln2214del
NM_003127.4:c.6590_6592del	NP_003118.2:p.Gln2197del