Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111783917_111783918del , CM000673.2:g.111783917_111783918del	GRCh38
NC_000011.9:g.111654641_111654642del , CM000673.1:g.111654641_111654642del	GRCh37
NC_000011.8:g.111159851_111159852del	NCBI36
NG_009210.1:g.92664_92665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616540.5:c.2480_2481del MANE Select	ENSP00000482437.1:n.2480_2481del
ENST00000532425.6:c.2763_2764del
NM_001077690.1:c.2480_2481del	NP_001071158.1:n.2480_2481del
NM_001077691.1:c.2480_2481del	NP_001071159.1:n.2480_2481del
NM_001077692.1:c.2480_2481del	NP_001071160.1:n.2480_2481del
NM_024740.2:c.2480_2481del MANE Select	NP_079016.2:n.2480_2481del
NM_001352409.1:c.2480_2481del	NP_001339338.1:n.2480_2481del
NM_001352410.1:c.2480_2481del	NP_001339339.1:n.2480_2481del
NM_001352411.1:c.2480_2481del	NP_001339340.1:n.2480_2481del
NM_001352412.1:c.2480_2481del	NP_001339341.1:n.2480_2481del
NM_001352413.1:c.2480_2481del	NP_001339342.1:n.2480_2481del
NM_001352414.1:c.2480_2481del	NP_001339343.1:n.2480_2481del
NM_001352415.1:c.2140_2141del	NP_001339344.1:n.2140_2141del
NM_001352416.1:c.2140_2141del	NP_001339345.1:n.2140_2141del
NM_001352417.1:c.2140_2141del	NP_001339346.1:n.2140_2141del
NM_001352418.1:c.2480_2481del	NP_001339347.1:n.2480_2481del
NM_001352419.1:c.2140_2141del	NP_001339348.1:n.2140_2141del
NM_001352420.1:c.2609_2610del	NP_001339349.1:n.2609_2610del
NM_001352421.1:c.2603_2604del	NP_001339350.1:n.2603_2604del
NM_001352422.1:c.2480_2481del	NP_001339351.1:n.2480_2481del
NM_001352423.1:c.2480_2481del	NP_001339352.1:n.2480_2481del
NR_147984.1:n.4935_4936del
XM_005277723.5:c.2140_2141del	XP_005277780.1:n.2140_2141del
XM_017018314.2:c.2480_2481del	XP_016873803.1:n.2480_2481del
XR_001747967.2:n.2246+1872_2246+1873del
XR_001747968.2:n.2225+1872_2225+1873del
XR_001747969.2:n.2123+1872_2123+1873del
XR_001747971.1:n.2554+1872_2554+1873del
XR_001747972.1:n.2558+1872_2558+1873del
XR_001747973.1:n.2261+1872_2261+1873del
XR_001747974.1:n.2374+1872_2374+1873del
XR_001747975.1:n.2533+1872_2533+1873del
XR_001747976.1:n.2537+1872_2537+1873del
XR_001747977.1:n.1710+1872_1710+1873del
NM_001077691.2:c.2480_2481del	NP_001071159.1:n.2480_2481del
NM_001077692.2:c.2480_2481del	NP_001071160.1:n.2480_2481del
NM_001352411.2:c.2480_2481del	NP_001339340.1:n.2480_2481del
NM_001352412.2:c.2480_2481del	NP_001339341.1:n.2480_2481del
NM_001352414.2:c.2480_2481del	NP_001339343.1:n.2480_2481del
NM_001352420.2:c.2609_2610del	NP_001339349.1:n.2609_2610del
NM_001352421.2:c.2603_2604del	NP_001339350.1:n.2603_2604del
NM_001352422.2:c.2480_2481del	NP_001339351.1:n.2480_2481del
NM_001352423.2:c.2480_2481del	NP_001339352.1:n.2480_2481del
NR_147984.2:n.4955_4956del

HGVS	Amino-acid Change
ENST00000616540.5:c.2480_2481del MANE Select	ENSP00000482437.1:n.2480_2481del
ENST00000532425.6:c.2763_2764del
NM_001077690.1:c.2480_2481del	NP_001071158.1:n.2480_2481del
NM_001077691.1:c.2480_2481del	NP_001071159.1:n.2480_2481del
NM_001077692.1:c.2480_2481del	NP_001071160.1:n.2480_2481del
NM_024740.2:c.2480_2481del MANE Select	NP_079016.2:n.2480_2481del
NM_001352409.1:c.2480_2481del	NP_001339338.1:n.2480_2481del
NM_001352410.1:c.2480_2481del	NP_001339339.1:n.2480_2481del
NM_001352411.1:c.2480_2481del	NP_001339340.1:n.2480_2481del
NM_001352412.1:c.2480_2481del	NP_001339341.1:n.2480_2481del
NM_001352413.1:c.2480_2481del	NP_001339342.1:n.2480_2481del
NM_001352414.1:c.2480_2481del	NP_001339343.1:n.2480_2481del
NM_001352415.1:c.2140_2141del	NP_001339344.1:n.2140_2141del
NM_001352416.1:c.2140_2141del	NP_001339345.1:n.2140_2141del
NM_001352417.1:c.2140_2141del	NP_001339346.1:n.2140_2141del
NM_001352418.1:c.2480_2481del	NP_001339347.1:n.2480_2481del
NM_001352419.1:c.2140_2141del	NP_001339348.1:n.2140_2141del
NM_001352420.1:c.2609_2610del	NP_001339349.1:n.2609_2610del
NM_001352421.1:c.2603_2604del	NP_001339350.1:n.2603_2604del
NM_001352422.1:c.2480_2481del	NP_001339351.1:n.2480_2481del
NM_001352423.1:c.2480_2481del	NP_001339352.1:n.2480_2481del
NR_147984.1:n.4935_4936del
XM_005277723.5:c.2140_2141del	XP_005277780.1:n.2140_2141del
XM_017018314.2:c.2480_2481del	XP_016873803.1:n.2480_2481del
XR_001747967.2:n.2246+1872_2246+1873del
XR_001747968.2:n.2225+1872_2225+1873del
XR_001747969.2:n.2123+1872_2123+1873del
XR_001747971.1:n.2554+1872_2554+1873del
XR_001747972.1:n.2558+1872_2558+1873del
XR_001747973.1:n.2261+1872_2261+1873del
XR_001747974.1:n.2374+1872_2374+1873del
XR_001747975.1:n.2533+1872_2533+1873del
XR_001747976.1:n.2537+1872_2537+1873del
XR_001747977.1:n.1710+1872_1710+1873del
NM_001077691.2:c.2480_2481del	NP_001071159.1:n.2480_2481del
NM_001077692.2:c.2480_2481del	NP_001071160.1:n.2480_2481del
NM_001352411.2:c.2480_2481del	NP_001339340.1:n.2480_2481del
NM_001352412.2:c.2480_2481del	NP_001339341.1:n.2480_2481del
NM_001352414.2:c.2480_2481del	NP_001339343.1:n.2480_2481del
NM_001352420.2:c.2609_2610del	NP_001339349.1:n.2609_2610del
NM_001352421.2:c.2603_2604del	NP_001339350.1:n.2603_2604del
NM_001352422.2:c.2480_2481del	NP_001339351.1:n.2480_2481del
NM_001352423.2:c.2480_2481del	NP_001339352.1:n.2480_2481del
NR_147984.2:n.4955_4956del