Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.34022491_34022495delinsCACAG , CM000668.2:g.34022491_34022495delinsCACAG	GRCh38
NC_000006.11:g.33990268_33990272delinsCACAG , CM000668.1:g.33990268_33990272delinsCACAG	GRCh37
NC_000006.10:g.34098246_34098250delinsCACAG	NCBI36
NG_029677.3:g.138128_138132delinsCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538487.7:c.326_330delinsCTGTG MANE Select	ENSP00000440556.1:n.326_330delinsCTGTG
ENST00000374177.7:c.326_330delinsCTGTG	ENSP00000363292.3:n.326_330delinsCTGTG
ENST00000374181.8:c.326_330delinsCTGTG	ENSP00000363296.4:n.326_330delinsCTGTG
ENST00000535756.5:c.326_330delinsCTGTG	ENSP00000437925.1:n.326_330delinsCTGTG
ENST00000538487.6:c.326_330delinsCTGTG	ENSP00000440556.1:n.326_330delinsCTGTG
ENST00000544773.6:c.326_330delinsCTGTG	ENSP00000437730.1:n.326_330delinsCTGTG
ENST00000545715.5:n.3114_3118delinsCTGTG
ENST00000609222.5:c.326_330delinsCTGTG	ENSP00000477466.1:n.326_330delinsCTGTG
ENST00000609860.5:n.3540_3544delinsCTGTG
NM_000841.3:c.326_330delinsCTGTG	NP_000832.1:n.326_330delinsCTGTG
NM_001256809.2:c.326_330delinsCTGTG	NP_001243738.1:n.326_330delinsCTGTG
NM_001256811.2:c.326_330delinsCTGTG	NP_001243740.1:n.326_330delinsCTGTG
NM_001256812.2:c.326_330delinsCTGTG	NP_001243741.1:n.326_330delinsCTGTG
NM_001256813.2:c.326_330delinsCTGTG	NP_001243742.1:n.326_330delinsCTGTG
NM_001282847.1:c.326_330delinsCTGTG	NP_001269776.1:n.326_330delinsCTGTG
XM_011514531.1:c.326_330delinsCTGTG	XP_011512833.1:n.326_330delinsCTGTG
XM_017010790.2:c.326_330delinsCTGTG	XP_016866279.1:n.326_330delinsCTGTG
XM_017010791.2:c.326_330delinsCTGTG	XP_016866280.1:n.326_330delinsCTGTG
XM_017010792.1:c.326_330delinsCTGTG	XP_016866281.1:n.326_330delinsCTGTG
XM_017010793.2:c.326_330delinsCTGTG	XP_016866282.1:n.326_330delinsCTGTG
XR_001743363.1:n.4054_4058delinsCTGTG
XR_001743364.2:n.3670_3674delinsCTGTG
NM_000841.4:c.326_330delinsCTGTG MANE Select	NP_000832.1:n.326_330delinsCTGTG
NM_001256813.3:c.326_330delinsCTGTG	NP_001243742.1:n.326_330delinsCTGTG
NM_001282847.2:c.326_330delinsCTGTG	NP_001269776.1:n.326_330delinsCTGTG
NM_001256809.3:c.326_330delinsCTGTG	NP_001243738.1:n.326_330delinsCTGTG
NM_001256811.3:c.326_330delinsCTGTG	NP_001243740.1:n.326_330delinsCTGTG

HGVS	Amino-acid Change
ENST00000538487.7:c.326_330delinsCTGTG MANE Select	ENSP00000440556.1:n.326_330delinsCTGTG
ENST00000374177.7:c.326_330delinsCTGTG	ENSP00000363292.3:n.326_330delinsCTGTG
ENST00000374181.8:c.326_330delinsCTGTG	ENSP00000363296.4:n.326_330delinsCTGTG
ENST00000535756.5:c.326_330delinsCTGTG	ENSP00000437925.1:n.326_330delinsCTGTG
ENST00000538487.6:c.326_330delinsCTGTG	ENSP00000440556.1:n.326_330delinsCTGTG
ENST00000544773.6:c.326_330delinsCTGTG	ENSP00000437730.1:n.326_330delinsCTGTG
ENST00000545715.5:n.3114_3118delinsCTGTG
ENST00000609222.5:c.326_330delinsCTGTG	ENSP00000477466.1:n.326_330delinsCTGTG
ENST00000609860.5:n.3540_3544delinsCTGTG
NM_000841.3:c.326_330delinsCTGTG	NP_000832.1:n.326_330delinsCTGTG
NM_001256809.2:c.326_330delinsCTGTG	NP_001243738.1:n.326_330delinsCTGTG
NM_001256811.2:c.326_330delinsCTGTG	NP_001243740.1:n.326_330delinsCTGTG
NM_001256812.2:c.326_330delinsCTGTG	NP_001243741.1:n.326_330delinsCTGTG
NM_001256813.2:c.326_330delinsCTGTG	NP_001243742.1:n.326_330delinsCTGTG
NM_001282847.1:c.326_330delinsCTGTG	NP_001269776.1:n.326_330delinsCTGTG
XM_011514531.1:c.326_330delinsCTGTG	XP_011512833.1:n.326_330delinsCTGTG
XM_017010790.2:c.326_330delinsCTGTG	XP_016866279.1:n.326_330delinsCTGTG
XM_017010791.2:c.326_330delinsCTGTG	XP_016866280.1:n.326_330delinsCTGTG
XM_017010792.1:c.326_330delinsCTGTG	XP_016866281.1:n.326_330delinsCTGTG
XM_017010793.2:c.326_330delinsCTGTG	XP_016866282.1:n.326_330delinsCTGTG
XR_001743363.1:n.4054_4058delinsCTGTG
XR_001743364.2:n.3670_3674delinsCTGTG
NM_000841.4:c.326_330delinsCTGTG MANE Select	NP_000832.1:n.326_330delinsCTGTG
NM_001256813.3:c.326_330delinsCTGTG	NP_001243742.1:n.326_330delinsCTGTG
NM_001282847.2:c.326_330delinsCTGTG	NP_001269776.1:n.326_330delinsCTGTG
NM_001256809.3:c.326_330delinsCTGTG	NP_001243738.1:n.326_330delinsCTGTG
NM_001256811.3:c.326_330delinsCTGTG	NP_001243740.1:n.326_330delinsCTGTG