Canonical Allele Identifier: CA2579469972

Gene: SPTAN1

Linked Data

• gnomAD v4: 9-128604271-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128604276del , CM000671.2:g.128604276del	GRCh38
NC_000009.11:g.131366555del , CM000671.1:g.131366555del	GRCh37
NC_000009.10:g.130406376del	NCBI36
NG_027748.1:g.56719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.3664-50del	ENSP00000486547.2:n.3664-50del
ENST00000630866.2:c.3628-50del	ENSP00000487444.1:n.3628-50del
ENST00000704202.1:c.3628-50del	ENSP00000515764.1:n.3628-50del
ENST00000704203.1:c.3664-50del	ENSP00000515765.1:n.3664-50del
ENST00000704204.1:c.3091-50del	ENSP00000515766.1:n.3091-50del
ENST00000704206.1:c.1251-50del
ENST00000706487.1:c.3628-50del	ENSP00000516412.1:n.3628-50del
ENST00000372739.7:c.3628-50del MANE Select	ENSP00000361824.4:n.3628-50del
ENST00000635806.1:c.184-50del
ENST00000635853.1:n.4763-50del
ENST00000358161.9:c.3568-50del	ENSP00000350882.6:n.3568-50del
ENST00000372731.8:c.3628-50del	ENSP00000361816.4:n.3628-50del
ENST00000372739.5:c.3628-50del	ENSP00000361824.3:n.3628-50del
ENST00000461855.3:n.201-50del
ENST00000630804.2:c.3568-50del	ENSP00000486308.1:n.3568-50del
ENST00000630866.1:c.3628-50del	ENSP00000487444.1:n.3628-50del
NM_001130438.2:c.3628-50del	NP_001123910.1:n.3628-50del
NM_001195532.1:c.3568-50del	NP_001182461.1:n.3568-50del
NM_003127.3:c.3628-50del	NP_003118.2:n.3628-50del
XM_006717245.1:c.3664-50del	XP_006717308.1:n.3664-50del
XM_006717246.1:c.3664-50del	XP_006717309.1:n.3664-50del
XM_006717247.1:c.3604-50del	XP_006717310.1:n.3604-50del
XM_006717248.1:c.3664-50del	XP_006717311.1:n.3664-50del
XM_006717249.1:c.3664-50del	XP_006717312.1:n.3664-50del
XM_006717250.1:c.3664-50del	XP_006717313.1:n.3664-50del
XM_006717251.1:c.3568-50del	XP_006717314.1:n.3568-50del
XM_006717252.1:c.3604-50del	XP_006717315.1:n.3604-50del
XM_006717253.1:c.3604-50del	XP_006717316.1:n.3604-50del
XM_006717254.1:c.3628-50del	XP_006717317.1:n.3628-50del
NM_001363759.1:c.3628-50del	NP_001350688.1:n.3628-50del
NM_001363765.1:c.3568-50del	NP_001350694.1:n.3568-50del
XM_006717247.2:c.3604-50del	XP_006717310.1:n.3604-50del
XM_006717248.2:c.3664-50del	XP_006717311.1:n.3664-50del
XM_006717251.2:c.3568-50del	XP_006717314.1:n.3568-50del
XM_006717252.3:c.3604-50del	XP_006717315.1:n.3604-50del
XM_017015059.1:c.3628-50del	XP_016870548.1:n.3628-50del
XM_017015060.1:c.3604-50del	XP_016870549.1:n.3604-50del
NM_001130438.3:c.3628-50del MANE Select	NP_001123910.1:n.3628-50del
NM_001195532.2:c.3568-50del	NP_001182461.1:n.3568-50del
NM_001363759.2:c.3628-50del	NP_001350688.1:n.3628-50del
NM_001363765.2:c.3568-50del	NP_001350694.1:n.3568-50del
NM_001375310.1:c.3628-50del	NP_001362239.1:n.3628-50del
NM_001375311.2:c.3628-50del	NP_001362240.1:n.3628-50del
NM_001375312.2:c.3664-50del	NP_001362241.2:n.3664-50del
NM_001375313.1:c.3628-50del	NP_001362242.1:n.3628-50del
NM_001375314.2:c.3568-50del	NP_001362243.1:n.3568-50del
NM_001375318.1:c.3664-50del	NP_001362247.1:n.3664-50del
NM_003127.4:c.3628-50del	NP_003118.2:n.3628-50del