Canonical Allele Identifier: CA1880360286

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128608663_128608666delinsACTT , CM000671.2:g.128608663_128608666delinsACTT	GRCh38
NC_000009.11:g.131370942_131370945delinsACTT , CM000671.1:g.131370942_131370945delinsACTT	GRCh37
NC_000009.10:g.130410763_130410766delinsACTT	NCBI36
NG_027748.1:g.61106_61109delinsACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.4528-211_4528-208delinsACTT	ENSP00000486547.2:n.4528-211_4528-208delinsACTT
ENST00000630866.2:c.4492-211_4492-208delinsACTT	ENSP00000487444.1:n.4492-211_4492-208delinsACTT
ENST00000704202.1:c.4492-211_4492-208delinsACTT	ENSP00000515764.1:n.4492-211_4492-208delinsACTT
ENST00000704203.1:c.4528-211_4528-208delinsACTT	ENSP00000515765.1:n.4528-211_4528-208delinsACTT
ENST00000704204.1:c.3955-211_3955-208delinsACTT	ENSP00000515766.1:n.3955-211_3955-208delinsACTT
ENST00000704206.1:c.2115-211_2115-208delinsACTT
ENST00000704207.1:c.102-211_102-208delinsACTT
ENST00000706487.1:c.4492-211_4492-208delinsACTT	ENSP00000516412.1:n.4492-211_4492-208delinsACTT
ENST00000372739.7:c.4492-211_4492-208delinsACTT MANE Select	ENSP00000361824.4:n.4492-211_4492-208delinsACTT
ENST00000635853.1:n.5627-211_5627-208delinsACTT
ENST00000358161.9:c.4432-211_4432-208delinsACTT	ENSP00000350882.6:n.4432-211_4432-208delinsACTT
ENST00000372731.8:c.4492-211_4492-208delinsACTT	ENSP00000361816.4:n.4492-211_4492-208delinsACTT
ENST00000372739.5:c.4492-211_4492-208delinsACTT	ENSP00000361824.3:n.4492-211_4492-208delinsACTT
ENST00000630804.2:c.4432-211_4432-208delinsACTT	ENSP00000486308.1:n.4432-211_4432-208delinsACTT
ENST00000630866.1:c.4492-211_4492-208delinsACTT	ENSP00000487444.1:n.4492-211_4492-208delinsACTT
ENST00000631121.1:n.242-211_242-208delinsACTT
NM_001130438.2:c.4492-211_4492-208delinsACTT	NP_001123910.1:n.4492-211_4492-208delinsACTT
NM_001195532.1:c.4432-211_4432-208delinsACTT	NP_001182461.1:n.4432-211_4432-208delinsACTT
NM_003127.3:c.4492-211_4492-208delinsACTT	NP_003118.2:n.4492-211_4492-208delinsACTT
XM_006717245.1:c.4528-211_4528-208delinsACTT	XP_006717308.1:n.4528-211_4528-208delinsACTT
XM_006717246.1:c.4528-211_4528-208delinsACTT	XP_006717309.1:n.4528-211_4528-208delinsACTT
XM_006717247.1:c.4468-211_4468-208delinsACTT	XP_006717310.1:n.4468-211_4468-208delinsACTT
XM_006717248.1:c.4528-211_4528-208delinsACTT	XP_006717311.1:n.4528-211_4528-208delinsACTT
XM_006717249.1:c.4528-211_4528-208delinsACTT	XP_006717312.1:n.4528-211_4528-208delinsACTT
XM_006717250.1:c.4528-211_4528-208delinsACTT	XP_006717313.1:n.4528-211_4528-208delinsACTT
XM_006717251.1:c.4432-211_4432-208delinsACTT	XP_006717314.1:n.4432-211_4432-208delinsACTT
XM_006717252.1:c.4468-211_4468-208delinsACTT	XP_006717315.1:n.4468-211_4468-208delinsACTT
XM_006717253.1:c.4468-211_4468-208delinsACTT	XP_006717316.1:n.4468-211_4468-208delinsACTT
XM_006717254.1:c.4492-211_4492-208delinsACTT	XP_006717317.1:n.4492-211_4492-208delinsACTT
NM_001363759.1:c.4492-211_4492-208delinsACTT	NP_001350688.1:n.4492-211_4492-208delinsACTT
NM_001363765.1:c.4432-211_4432-208delinsACTT	NP_001350694.1:n.4432-211_4432-208delinsACTT
XM_006717247.2:c.4468-211_4468-208delinsACTT	XP_006717310.1:n.4468-211_4468-208delinsACTT
XM_006717248.2:c.4528-211_4528-208delinsACTT	XP_006717311.1:n.4528-211_4528-208delinsACTT
XM_006717251.2:c.4432-211_4432-208delinsACTT	XP_006717314.1:n.4432-211_4432-208delinsACTT
XM_006717252.3:c.4468-211_4468-208delinsACTT	XP_006717315.1:n.4468-211_4468-208delinsACTT
XM_017015059.1:c.4492-211_4492-208delinsACTT	XP_016870548.1:n.4492-211_4492-208delinsACTT
XM_017015060.1:c.4468-211_4468-208delinsACTT	XP_016870549.1:n.4468-211_4468-208delinsACTT
NM_001130438.3:c.4492-211_4492-208delinsACTT MANE Select	NP_001123910.1:n.4492-211_4492-208delinsACTT
NM_001195532.2:c.4432-211_4432-208delinsACTT	NP_001182461.1:n.4432-211_4432-208delinsACTT
NM_001363759.2:c.4492-211_4492-208delinsACTT	NP_001350688.1:n.4492-211_4492-208delinsACTT
NM_001363765.2:c.4432-211_4432-208delinsACTT	NP_001350694.1:n.4432-211_4432-208delinsACTT
NM_001375310.1:c.4492-211_4492-208delinsACTT	NP_001362239.1:n.4492-211_4492-208delinsACTT
NM_001375311.2:c.4492-211_4492-208delinsACTT	NP_001362240.1:n.4492-211_4492-208delinsACTT
NM_001375312.2:c.4528-211_4528-208delinsACTT	NP_001362241.2:n.4528-211_4528-208delinsACTT
NM_001375313.1:c.4492-211_4492-208delinsACTT	NP_001362242.1:n.4492-211_4492-208delinsACTT
NM_001375314.2:c.4432-211_4432-208delinsACTT	NP_001362243.1:n.4432-211_4432-208delinsACTT
NM_001375318.1:c.4528-211_4528-208delinsACTT	NP_001362247.1:n.4528-211_4528-208delinsACTT
NM_003127.4:c.4492-211_4492-208delinsACTT	NP_003118.2:n.4492-211_4492-208delinsACTT