Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111783901_111783905del , CM000673.2:g.111783901_111783905del	GRCh38
NC_000011.9:g.111654625_111654629del , CM000673.1:g.111654625_111654629del	GRCh37
NC_000011.8:g.111159835_111159839del	NCBI36
NG_009210.1:g.92680_92684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.2496_2500del MANE Select	ENSP00000482437.1:n.2496_2500del
ENST00000532425.6:c.2779_2783del
NM_001077690.1:c.2496_2500del	NP_001071158.1:n.2496_2500del
NM_001077691.1:c.2496_2500del	NP_001071159.1:n.2496_2500del
NM_001077692.1:c.2496_2500del	NP_001071160.1:n.2496_2500del
NM_024740.2:c.2496_2500del MANE Select	NP_079016.2:n.2496_2500del
NM_001352409.1:c.2496_2500del	NP_001339338.1:n.2496_2500del
NM_001352410.1:c.2496_2500del	NP_001339339.1:n.2496_2500del
NM_001352411.1:c.2496_2500del	NP_001339340.1:n.2496_2500del
NM_001352412.1:c.2496_2500del	NP_001339341.1:n.2496_2500del
NM_001352413.1:c.2496_2500del	NP_001339342.1:n.2496_2500del
NM_001352414.1:c.2496_2500del	NP_001339343.1:n.2496_2500del
NM_001352415.1:c.2156_2160del	NP_001339344.1:n.2156_2160del
NM_001352416.1:c.2156_2160del	NP_001339345.1:n.2156_2160del
NM_001352417.1:c.2156_2160del	NP_001339346.1:n.2156_2160del
NM_001352418.1:c.2496_2500del	NP_001339347.1:n.2496_2500del
NM_001352419.1:c.2156_2160del	NP_001339348.1:n.2156_2160del
NM_001352420.1:c.2625_2629del	NP_001339349.1:n.2625_2629del
NM_001352421.1:c.2619_2623del	NP_001339350.1:n.2619_2623del
NM_001352422.1:c.2496_2500del	NP_001339351.1:n.2496_2500del
NM_001352423.1:c.2496_2500del	NP_001339352.1:n.2496_2500del
NR_147984.1:n.4951_4955del
XM_005277723.5:c.2156_2160del	XP_005277780.1:n.2156_2160del
XM_017018314.2:c.2496_2500del	XP_016873803.1:n.2496_2500del
XR_001747967.2:n.2246+1888_2246+1892del
XR_001747968.2:n.2225+1888_2225+1892del
XR_001747969.2:n.2123+1888_2123+1892del
XR_001747971.1:n.2554+1888_2554+1892del
XR_001747972.1:n.2558+1888_2558+1892del
XR_001747973.1:n.2261+1888_2261+1892del
XR_001747974.1:n.2374+1888_2374+1892del
XR_001747975.1:n.2533+1888_2533+1892del
XR_001747976.1:n.2537+1888_2537+1892del
XR_001747977.1:n.1710+1888_1710+1892del
NM_001077691.2:c.2496_2500del	NP_001071159.1:n.2496_2500del
NM_001077692.2:c.2496_2500del	NP_001071160.1:n.2496_2500del
NM_001352411.2:c.2496_2500del	NP_001339340.1:n.2496_2500del
NM_001352412.2:c.2496_2500del	NP_001339341.1:n.2496_2500del
NM_001352414.2:c.2496_2500del	NP_001339343.1:n.2496_2500del
NM_001352420.2:c.2625_2629del	NP_001339349.1:n.2625_2629del
NM_001352421.2:c.2619_2623del	NP_001339350.1:n.2619_2623del
NM_001352422.2:c.2496_2500del	NP_001339351.1:n.2496_2500del
NM_001352423.2:c.2496_2500del	NP_001339352.1:n.2496_2500del
NR_147984.2:n.4971_4975del

HGVS	Amino-acid Change
ENST00000616540.5:c.2496_2500del MANE Select	ENSP00000482437.1:n.2496_2500del
ENST00000532425.6:c.2779_2783del
NM_001077690.1:c.2496_2500del	NP_001071158.1:n.2496_2500del
NM_001077691.1:c.2496_2500del	NP_001071159.1:n.2496_2500del
NM_001077692.1:c.2496_2500del	NP_001071160.1:n.2496_2500del
NM_024740.2:c.2496_2500del MANE Select	NP_079016.2:n.2496_2500del
NM_001352409.1:c.2496_2500del	NP_001339338.1:n.2496_2500del
NM_001352410.1:c.2496_2500del	NP_001339339.1:n.2496_2500del
NM_001352411.1:c.2496_2500del	NP_001339340.1:n.2496_2500del
NM_001352412.1:c.2496_2500del	NP_001339341.1:n.2496_2500del
NM_001352413.1:c.2496_2500del	NP_001339342.1:n.2496_2500del
NM_001352414.1:c.2496_2500del	NP_001339343.1:n.2496_2500del
NM_001352415.1:c.2156_2160del	NP_001339344.1:n.2156_2160del
NM_001352416.1:c.2156_2160del	NP_001339345.1:n.2156_2160del
NM_001352417.1:c.2156_2160del	NP_001339346.1:n.2156_2160del
NM_001352418.1:c.2496_2500del	NP_001339347.1:n.2496_2500del
NM_001352419.1:c.2156_2160del	NP_001339348.1:n.2156_2160del
NM_001352420.1:c.2625_2629del	NP_001339349.1:n.2625_2629del
NM_001352421.1:c.2619_2623del	NP_001339350.1:n.2619_2623del
NM_001352422.1:c.2496_2500del	NP_001339351.1:n.2496_2500del
NM_001352423.1:c.2496_2500del	NP_001339352.1:n.2496_2500del
NR_147984.1:n.4951_4955del
XM_005277723.5:c.2156_2160del	XP_005277780.1:n.2156_2160del
XM_017018314.2:c.2496_2500del	XP_016873803.1:n.2496_2500del
XR_001747967.2:n.2246+1888_2246+1892del
XR_001747968.2:n.2225+1888_2225+1892del
XR_001747969.2:n.2123+1888_2123+1892del
XR_001747971.1:n.2554+1888_2554+1892del
XR_001747972.1:n.2558+1888_2558+1892del
XR_001747973.1:n.2261+1888_2261+1892del
XR_001747974.1:n.2374+1888_2374+1892del
XR_001747975.1:n.2533+1888_2533+1892del
XR_001747976.1:n.2537+1888_2537+1892del
XR_001747977.1:n.1710+1888_1710+1892del
NM_001077691.2:c.2496_2500del	NP_001071159.1:n.2496_2500del
NM_001077692.2:c.2496_2500del	NP_001071160.1:n.2496_2500del
NM_001352411.2:c.2496_2500del	NP_001339340.1:n.2496_2500del
NM_001352412.2:c.2496_2500del	NP_001339341.1:n.2496_2500del
NM_001352414.2:c.2496_2500del	NP_001339343.1:n.2496_2500del
NM_001352420.2:c.2625_2629del	NP_001339349.1:n.2625_2629del
NM_001352421.2:c.2619_2623del	NP_001339350.1:n.2619_2623del
NM_001352422.2:c.2496_2500del	NP_001339351.1:n.2496_2500del
NM_001352423.2:c.2496_2500del	NP_001339352.1:n.2496_2500del
NR_147984.2:n.4971_4975del