Canonical Allele Identifier: CA5265444

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 283845
• ClinVar RCV Id: RCV000329834 ; RCV002059138
• dbSNP Id: rs769628464
• ExAC: 9:131379906 ATC / A
• gnomAD v2: 9-131379906-ATC-A
• gnomAD v3: 9-128617627-ATC-A
• gnomAD v4: 9-128617627-ATC-A
• MyVariant Identifiers: chr9:g.131379911_131379912del (hg19) ; chr9:g.131379907_131379908del (hg19) ; chr9:g.128617632_128617633del (hg38) ; chr9:g.128617629_128617630del (hg38) ; chr9:g.128617628_128617629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128617632_128617633del , CM000671.2:g.128617632_128617633del	GRCh38
NC_000009.11:g.131379911_131379912del , CM000671.1:g.131379911_131379912del	GRCh37
NC_000009.10:g.130419732_130419733del	NCBI36
NG_027748.1:g.70075_70076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5394-8_5394-7del	ENSP00000486547.2:n.5394-8_5394-7del
ENST00000630866.2:c.5358-8_5358-7del	ENSP00000487444.1:n.5358-8_5358-7del
ENST00000704202.1:c.5358-8_5358-7del	ENSP00000515764.1:n.5358-8_5358-7del
ENST00000704203.1:c.5394-8_5394-7del	ENSP00000515765.1:n.5394-8_5394-7del
ENST00000704204.1:c.4821-8_4821-7del	ENSP00000515766.1:n.4821-8_4821-7del
ENST00000704206.1:c.2981-8_2981-7del
ENST00000704207.1:c.968-8_968-7del
ENST00000706487.1:c.5358-8_5358-7del	ENSP00000516412.1:n.5358-8_5358-7del
ENST00000372739.7:c.5358-8_5358-7del MANE Select	ENSP00000361824.4:n.5358-8_5358-7del
ENST00000637434.1:n.586-8_586-7del
ENST00000358161.9:c.5283-8_5283-7del	ENSP00000350882.6:n.5283-8_5283-7del
ENST00000372731.8:c.5343-8_5343-7del	ENSP00000361816.4:n.5343-8_5343-7del
ENST00000372739.5:c.5358-8_5358-7del	ENSP00000361824.3:n.5358-8_5358-7del
ENST00000630804.2:c.5298-8_5298-7del	ENSP00000486308.1:n.5298-8_5298-7del
ENST00000630866.1:c.5358-8_5358-7del	ENSP00000487444.1:n.5358-8_5358-7del
NM_001130438.2:c.5358-8_5358-7del	NP_001123910.1:n.5358-8_5358-7del
NM_001195532.1:c.5283-8_5283-7del	NP_001182461.1:n.5283-8_5283-7del
NM_003127.3:c.5343-8_5343-7del	NP_003118.2:n.5343-8_5343-7del
XM_006717245.1:c.5394-8_5394-7del	XP_006717308.1:n.5394-8_5394-7del
XM_006717246.1:c.5379-8_5379-7del	XP_006717309.1:n.5379-8_5379-7del
XM_006717247.1:c.5334-8_5334-7del	XP_006717310.1:n.5334-8_5334-7del
XM_006717248.1:c.5394-8_5394-7del	XP_006717311.1:n.5394-8_5394-7del
XM_006717249.1:c.5379-8_5379-7del	XP_006717312.1:n.5379-8_5379-7del
XM_006717250.1:c.5394-8_5394-7del	XP_006717313.1:n.5394-8_5394-7del
XM_006717251.1:c.5298-8_5298-7del	XP_006717314.1:n.5298-8_5298-7del
XM_006717252.1:c.5334-8_5334-7del	XP_006717315.1:n.5334-8_5334-7del
XM_006717253.1:c.5319-8_5319-7del	XP_006717316.1:n.5319-8_5319-7del
XM_006717254.1:c.5358-8_5358-7del	XP_006717317.1:n.5358-8_5358-7del
NM_001363759.1:c.5358-8_5358-7del	NP_001350688.1:n.5358-8_5358-7del
NM_001363765.1:c.5298-8_5298-7del	NP_001350694.1:n.5298-8_5298-7del
XM_006717247.2:c.5334-8_5334-7del	XP_006717310.1:n.5334-8_5334-7del
XM_006717248.2:c.5394-8_5394-7del	XP_006717311.1:n.5394-8_5394-7del
XM_006717251.2:c.5298-8_5298-7del	XP_006717314.1:n.5298-8_5298-7del
XM_006717252.3:c.5334-8_5334-7del	XP_006717315.1:n.5334-8_5334-7del
XM_017015059.1:c.5358-8_5358-7del	XP_016870548.1:n.5358-8_5358-7del
XM_017015060.1:c.5334-8_5334-7del	XP_016870549.1:n.5334-8_5334-7del
NM_001130438.3:c.5358-8_5358-7del MANE Select	NP_001123910.1:n.5358-8_5358-7del
NM_001195532.2:c.5283-8_5283-7del	NP_001182461.1:n.5283-8_5283-7del
NM_001363759.2:c.5358-8_5358-7del	NP_001350688.1:n.5358-8_5358-7del
NM_001363765.2:c.5298-8_5298-7del	NP_001350694.1:n.5298-8_5298-7del
NM_001375310.1:c.5358-8_5358-7del	NP_001362239.1:n.5358-8_5358-7del
NM_001375311.2:c.5358-8_5358-7del	NP_001362240.1:n.5358-8_5358-7del
NM_001375312.2:c.5394-8_5394-7del	NP_001362241.2:n.5394-8_5394-7del
NM_001375313.1:c.5358-8_5358-7del	NP_001362242.1:n.5358-8_5358-7del
NM_001375314.2:c.5298-8_5298-7del	NP_001362243.1:n.5298-8_5298-7del
NM_001375318.1:c.5394-8_5394-7del	NP_001362247.1:n.5394-8_5394-7del
NM_003127.4:c.5343-8_5343-7del	NP_003118.2:n.5343-8_5343-7del