Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115414_2115419del , CM000678.2:g.2115414_2115419del	GRCh38
NC_000016.9:g.2165415_2165420del , CM000678.1:g.2165415_2165420del	GRCh37
NC_000016.8:g.2105416_2105421del	NCBI36
NG_008617.1:g.25483_25488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2059_2064del MANE Select	ENSP00000262304.4:p.Leu687_Phe688del
ENST00000262304.8:c.2059_2064del	ENSP00000262304.4:p.Leu687_Phe688del
ENST00000423118.5:c.2059_2064del	ENSP00000399501.1:p.Leu687_Phe688del
ENST00000488185.2:c.472+2073_472+2078del
ENST00000568591.5:c.990_995del	ENSP00000457162.1:n.990_995del
NM_000296.3:c.2059_2064del	NP_000287.3:p.Leu687_Phe688del
NM_001009944.2:c.2059_2064del	NP_001009944.2:p.Leu687_Phe688del
XM_011522525.1:c.2113_2118del	XP_011520827.1:p.Leu705_Phe706del
XM_011522526.1:c.2113_2118del	XP_011520828.1:p.Leu705_Phe706del
XM_011522527.1:c.2113_2118del	XP_011520829.1:p.Leu705_Phe706del
XM_011522528.1:c.2113_2118del	XP_011520830.1:p.Leu705_Phe706del
XM_011522529.1:c.2113_2118del	XP_011520831.1:p.Leu705_Phe706del
XM_011522530.1:c.2059_2064del	XP_011520832.1:p.Leu687_Phe688del
XM_011522531.1:c.2041_2046del	XP_011520833.1:p.Leu681_Phe682del
XM_011522532.1:c.1987_1992del	XP_011520834.1:p.Leu663_Phe664del
XM_011522533.1:c.1906_1911del	XP_011520835.1:p.Leu636_Phe637del
XM_011522534.1:c.1849_1854del	XP_011520836.1:p.Leu617_Phe618del
XM_011522536.1:c.2113_2118del	XP_011520838.1:p.Leu705_Phe706del
XR_932867.1:n.2128_2133del
XR_932868.1:n.2128_2133del
XR_932869.1:n.2128_2133del
XR_932870.1:n.2128_2133del
XM_011522528.3:c.2113_2118del	XP_011520830.1:p.Leu705_Phe706del
XM_011522529.2:c.2113_2118del	XP_011520831.1:p.Leu705_Phe706del
XM_024450298.1:c.2059_2064del	XP_024306066.1:p.Leu687_Phe688del
XM_024450299.1:c.1987_1992del	XP_024306067.1:p.Leu663_Phe664del
XM_024450300.1:c.1849_1854del	XP_024306068.1:p.Leu617_Phe618del
NM_000296.4:c.2059_2064del	NP_000287.4:p.Leu687_Phe688del
NM_001009944.3:c.2059_2064del MANE Select	NP_001009944.3:p.Leu687_Phe688del