Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659887del , CM000668.2:g.51659887del	GRCh38
NC_000006.11:g.51524685del , CM000668.1:g.51524685del	GRCh37
NC_000006.10:g.51632644del	NCBI36
NG_008753.1:g.432740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10240del MANE Select	ENSP00000360158.3:p.Ile3414PhefsTer20
ENST00000371117.7:c.10240del	ENSP00000360158.3:p.Ile3414PhefsTer20
NM_138694.3:c.10240del	NP_619639.3:p.Ile3414PhefsTer20
XM_011514679.1:c.10240del	XP_011512981.1:p.Ile3414PhefsTer20
XM_011514680.1:c.10240del	XP_011512982.1:p.Ile3414PhefsTer20
XM_011514681.1:c.10111del	XP_011512983.1:p.Ile3371PhefsTer20
XM_011514682.1:c.10102del	XP_011512984.1:p.Ile3368PhefsTer20
XM_011514683.1:c.9598del	XP_011512985.1:p.Ile3200PhefsTer20
XM_011514684.1:c.9529del	XP_011512986.1:p.Ile3177PhefsTer20
XM_011514687.1:c.10157-10666del	XP_011512989.1:n.10157-10666del
XM_011514690.1:c.4315del	XP_011512992.1:p.Ile1439PhefsTer20
XM_011514691.1:c.4315del	XP_011512993.1:p.Ile1439PhefsTer20
XR_926870.1:n.535+7514del
XR_926871.1:n.403+7514del
XR_926872.1:n.535+7514del
XM_011514680.3:c.10240del	XP_011512982.1:p.Ile3414PhefsTer20
XM_011514682.3:c.10102del	XP_011512984.1:p.Ile3368PhefsTer20
XM_011514683.3:c.9598del	XP_011512985.1:p.Ile3200PhefsTer20
XM_011514684.3:c.9529del	XP_011512986.1:p.Ile3177PhefsTer20
XM_011514690.3:c.4315del	XP_011512992.1:p.Ile1439PhefsTer20
XM_011514691.3:c.4315del	XP_011512993.1:p.Ile1439PhefsTer20
XM_017010944.2:c.10240del	XP_016866433.1:p.Ile3414PhefsTer20
XM_017010945.2:c.10165del	XP_016866434.1:p.Ile3389PhefsTer20
XM_017010946.2:c.10045del	XP_016866435.1:p.Ile3349PhefsTer20
XM_017010947.2:c.9976del	XP_016866436.1:p.Ile3326PhefsTer20
XM_017010948.2:c.9529del	XP_016866437.1:p.Ile3177PhefsTer20
XM_017010949.2:c.8380del	XP_016866438.1:p.Ile2794PhefsTer20
XR_001743469.1:n.10516del
XR_001744157.1:n.3145+7514del
XR_926870.2:n.3145+7514del
XR_926871.2:n.3013+7514del
XR_926872.2:n.3145+7514del
NM_138694.4:c.10240del MANE Select	NP_619639.3:p.Ile3414PhefsTer20