Canonical Allele Identifier: CA1880364228

Gene: SPTAN1

Linked Data

• dbSNP Id: rs1857357886
• gnomAD v4: 9-128617799-TTGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128617802_128617805del , CM000671.2:g.128617802_128617805del	GRCh38
NC_000009.11:g.131380081_131380084del , CM000671.1:g.131380081_131380084del	GRCh37
NC_000009.10:g.130419902_130419905del	NCBI36
NG_027748.1:g.70245_70248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5514+42_5514+45del	ENSP00000486547.2:n.5514+42_5514+45del
ENST00000630866.2:c.5478+42_5478+45del	ENSP00000487444.1:n.5478+42_5478+45del
ENST00000704202.1:c.5478+42_5478+45del	ENSP00000515764.1:n.5478+42_5478+45del
ENST00000704203.1:c.5514+42_5514+45del	ENSP00000515765.1:n.5514+42_5514+45del
ENST00000704204.1:c.4941+42_4941+45del	ENSP00000515766.1:n.4941+42_4941+45del
ENST00000704206.1:c.3101+42_3101+45del
ENST00000704207.1:c.1088+42_1088+45del
ENST00000706487.1:c.5478+42_5478+45del	ENSP00000516412.1:n.5478+42_5478+45del
ENST00000372739.7:c.5478+42_5478+45del MANE Select	ENSP00000361824.4:n.5478+42_5478+45del
ENST00000637434.1:n.706+42_706+45del
ENST00000358161.9:c.5403+42_5403+45del	ENSP00000350882.6:n.5403+42_5403+45del
ENST00000372731.8:c.5463+42_5463+45del	ENSP00000361816.4:n.5463+42_5463+45del
ENST00000372739.5:c.5478+42_5478+45del	ENSP00000361824.3:n.5478+42_5478+45del
ENST00000630804.2:c.5418+42_5418+45del	ENSP00000486308.1:n.5418+42_5418+45del
ENST00000630866.1:c.5478+42_5478+45del	ENSP00000487444.1:n.5478+42_5478+45del
NM_001130438.2:c.5478+42_5478+45del	NP_001123910.1:n.5478+42_5478+45del
NM_001195532.1:c.5403+42_5403+45del	NP_001182461.1:n.5403+42_5403+45del
NM_003127.3:c.5463+42_5463+45del	NP_003118.2:n.5463+42_5463+45del
XM_006717245.1:c.5514+42_5514+45del	XP_006717308.1:n.5514+42_5514+45del
XM_006717246.1:c.5499+42_5499+45del	XP_006717309.1:n.5499+42_5499+45del
XM_006717247.1:c.5454+42_5454+45del	XP_006717310.1:n.5454+42_5454+45del
XM_006717248.1:c.5514+42_5514+45del	XP_006717311.1:n.5514+42_5514+45del
XM_006717249.1:c.5499+42_5499+45del	XP_006717312.1:n.5499+42_5499+45del
XM_006717250.1:c.5514+42_5514+45del	XP_006717313.1:n.5514+42_5514+45del
XM_006717251.1:c.5418+42_5418+45del	XP_006717314.1:n.5418+42_5418+45del
XM_006717252.1:c.5454+42_5454+45del	XP_006717315.1:n.5454+42_5454+45del
XM_006717253.1:c.5439+42_5439+45del	XP_006717316.1:n.5439+42_5439+45del
XM_006717254.1:c.5478+42_5478+45del	XP_006717317.1:n.5478+42_5478+45del
NM_001363759.1:c.5478+42_5478+45del	NP_001350688.1:n.5478+42_5478+45del
NM_001363765.1:c.5418+42_5418+45del	NP_001350694.1:n.5418+42_5418+45del
XM_006717247.2:c.5454+42_5454+45del	XP_006717310.1:n.5454+42_5454+45del
XM_006717248.2:c.5514+42_5514+45del	XP_006717311.1:n.5514+42_5514+45del
XM_006717251.2:c.5418+42_5418+45del	XP_006717314.1:n.5418+42_5418+45del
XM_006717252.3:c.5454+42_5454+45del	XP_006717315.1:n.5454+42_5454+45del
XM_017015059.1:c.5478+42_5478+45del	XP_016870548.1:n.5478+42_5478+45del
XM_017015060.1:c.5454+42_5454+45del	XP_016870549.1:n.5454+42_5454+45del
NM_001130438.3:c.5478+42_5478+45del MANE Select	NP_001123910.1:n.5478+42_5478+45del
NM_001195532.2:c.5403+42_5403+45del	NP_001182461.1:n.5403+42_5403+45del
NM_001363759.2:c.5478+42_5478+45del	NP_001350688.1:n.5478+42_5478+45del
NM_001363765.2:c.5418+42_5418+45del	NP_001350694.1:n.5418+42_5418+45del
NM_001375310.1:c.5478+42_5478+45del	NP_001362239.1:n.5478+42_5478+45del
NM_001375311.2:c.5478+42_5478+45del	NP_001362240.1:n.5478+42_5478+45del
NM_001375312.2:c.5514+42_5514+45del	NP_001362241.2:n.5514+42_5514+45del
NM_001375313.1:c.5478+42_5478+45del	NP_001362242.1:n.5478+42_5478+45del
NM_001375314.2:c.5418+42_5418+45del	NP_001362243.1:n.5418+42_5418+45del
NM_001375318.1:c.5514+42_5514+45del	NP_001362247.1:n.5514+42_5514+45del
NM_003127.4:c.5463+42_5463+45del	NP_003118.2:n.5463+42_5463+45del