Canonical Allele Identifier: CA2586963921

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 2627821
• ClinVar RCV Id: RCV003389165

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128617750_128617753del , CM000671.2:g.128617750_128617753del	GRCh38
NC_000009.11:g.131380029_131380032del , CM000671.1:g.131380029_131380032del	GRCh37
NC_000009.10:g.130419850_130419853del	NCBI36
NG_027748.1:g.70193_70196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000627441.3:c.5504_5507del	ENSP00000486547.2:p.Pro1835LeufsTer?
ENST00000630866.2:c.5468_5471del	ENSP00000487444.1:p.Pro1823LeufsTer?
ENST00000704202.1:c.5468_5471del	ENSP00000515764.1:p.Pro1823LeufsTer?
ENST00000704203.1:c.5504_5507del	ENSP00000515765.1:p.Pro1835LeufsTer?
ENST00000704204.1:c.4931_4934del	ENSP00000515766.1:p.Pro1644LeufsTer?
ENST00000704206.1:c.3091_3094del
ENST00000704207.1:c.1078_1081del
ENST00000706487.1:c.5468_5471del	ENSP00000516412.1:p.Pro1823LeufsTer?
ENST00000372739.7:c.5468_5471del MANE Select	ENSP00000361824.4:p.Pro1823LeufsTer?
ENST00000637434.1:n.696_699del
ENST00000358161.9:c.5393_5396del	ENSP00000350882.6:p.Pro1798LeufsTer?
ENST00000372731.8:c.5453_5456del	ENSP00000361816.4:p.Pro1818LeufsTer?
ENST00000372739.5:c.5468_5471del	ENSP00000361824.3:p.Pro1823LeufsTer?
ENST00000630804.2:c.5408_5411del	ENSP00000486308.1:p.Pro1803LeufsTer?
ENST00000630866.1:c.5468_5471del	ENSP00000487444.1:p.Pro1823LeufsTer?
NM_001130438.2:c.5468_5471del	NP_001123910.1:p.Pro1823LeufsTer?
NM_001195532.1:c.5393_5396del	NP_001182461.1:p.Pro1798LeufsTer?
NM_003127.3:c.5453_5456del	NP_003118.2:p.Pro1818LeufsTer?
XM_006717245.1:c.5504_5507del	XP_006717308.1:p.Pro1835LeufsTer?
XM_006717246.1:c.5489_5492del	XP_006717309.1:p.Pro1830LeufsTer?
XM_006717247.1:c.5444_5447del	XP_006717310.1:p.Pro1815LeufsTer?
XM_006717248.1:c.5504_5507del	XP_006717311.1:p.Pro1835LeufsTer?
XM_006717249.1:c.5489_5492del	XP_006717312.1:p.Pro1830LeufsTer?
XM_006717250.1:c.5504_5507del	XP_006717313.1:p.Pro1835LeufsTer?
XM_006717251.1:c.5408_5411del	XP_006717314.1:p.Pro1803LeufsTer?
XM_006717252.1:c.5444_5447del	XP_006717315.1:p.Pro1815LeufsTer?
XM_006717253.1:c.5429_5432del	XP_006717316.1:p.Pro1810LeufsTer?
XM_006717254.1:c.5468_5471del	XP_006717317.1:p.Pro1823LeufsTer?
NM_001363759.1:c.5468_5471del	NP_001350688.1:p.Pro1823LeufsTer?
NM_001363765.1:c.5408_5411del	NP_001350694.1:p.Pro1803LeufsTer?
XM_006717247.2:c.5444_5447del	XP_006717310.1:p.Pro1815LeufsTer?
XM_006717248.2:c.5504_5507del	XP_006717311.1:p.Pro1835LeufsTer?
XM_006717251.2:c.5408_5411del	XP_006717314.1:p.Pro1803LeufsTer?
XM_006717252.3:c.5444_5447del	XP_006717315.1:p.Pro1815LeufsTer?
XM_017015059.1:c.5468_5471del	XP_016870548.1:p.Pro1823LeufsTer?
XM_017015060.1:c.5444_5447del	XP_016870549.1:p.Pro1815LeufsTer?
NM_001130438.3:c.5468_5471del MANE Select	NP_001123910.1:p.Pro1823LeufsTer?
NM_001195532.2:c.5393_5396del	NP_001182461.1:p.Pro1798LeufsTer?
NM_001363759.2:c.5468_5471del	NP_001350688.1:p.Pro1823LeufsTer?
NM_001363765.2:c.5408_5411del	NP_001350694.1:p.Pro1803LeufsTer?
NM_001375310.1:c.5468_5471del	NP_001362239.1:p.Pro1823LeufsTer?
NM_001375311.2:c.5468_5471del	NP_001362240.1:p.Pro1823LeufsTer?
NM_001375312.2:c.5504_5507del	NP_001362241.2:p.Pro1835LeufsTer?
NM_001375313.1:c.5468_5471del	NP_001362242.1:p.Pro1823LeufsTer?
NM_001375314.2:c.5408_5411del	NP_001362243.1:p.Pro1803LeufsTer?
NM_001375318.1:c.5504_5507del	NP_001362247.1:p.Pro1835LeufsTer?
NM_003127.4:c.5453_5456del	NP_003118.2:p.Pro1818LeufsTer?