Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35092642del , CM000671.2:g.35092642del	GRCh38
NC_000009.11:g.35092639del , CM000671.1:g.35092639del	GRCh37
NC_000009.10:g.35082639del	NCBI36
NG_031990.1:g.8964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361778.7:c.1249del	ENSP00000354678.2:p.Ala417LeufsTer8
ENST00000700254.1:c.1249del	ENSP00000514892.1:p.Ala417LeufsTer8
ENST00000700255.1:c.*429del	ENSP00000514893.1:n.*429del
ENST00000700256.1:n.1281del
ENST00000700257.1:c.1249del	ENSP00000514894.1:p.Ala417LeufsTer8
ENST00000700259.1:c.1249del	ENSP00000514895.1:p.Ala417LeufsTer8
ENST00000700260.1:c.1069del	ENSP00000514896.1:p.Ala357LeufsTer8
ENST00000700261.1:c.1249del	ENSP00000514897.1:p.Ala417LeufsTer8
ENST00000700262.1:c.1249del	ENSP00000514898.1:p.Ala417LeufsTer8
ENST00000700263.1:c.1125del	ENSP00000514899.1:n.1125del
ENST00000700264.1:c.1249del	ENSP00000514900.1:p.Ala417LeufsTer8
ENST00000378617.4:c.1249del MANE Select	ENSP00000367880.3:p.Ala417LeufsTer8
ENST00000298004.9:c.1249del	ENSP00000298004.5:p.Ala417LeufsTer8
ENST00000361778.6:c.1249del	ENSP00000354678.2:p.Ala417LeufsTer8
ENST00000378617.3:c.1249del	ENSP00000367880.3:p.Ala417LeufsTer8
ENST00000465745.6:n.2250del
ENST00000474436.1:n.2707del
NM_001201484.1:c.1249del	NP_001188413.1:p.Ala417LeufsTer8
NM_032634.3:c.1249del	NP_116023.2:p.Ala417LeufsTer8
NM_152850.3:c.1249del	NP_690577.2:p.Ala417LeufsTer8
XM_005251619.2:c.1249del	XP_005251676.1:p.Ala417LeufsTer8
XM_011518056.1:c.1249del	XP_011516358.1:p.Ala417LeufsTer8
XR_242515.1:n.1270del
XM_005251619.3:c.1249del	XP_005251676.1:p.Ala417LeufsTer8
XM_017015222.2:c.1249del	XP_016870711.1:p.Ala417LeufsTer8
XM_017015223.1:c.1249del	XP_016870712.1:p.Ala417LeufsTer8
XM_017015224.1:c.1249del	XP_016870713.1:p.Ala417LeufsTer8
XR_001746390.1:n.1672del
XR_001746391.2:n.1270del
XR_242515.3:n.1270del
NM_032634.4:c.1249del MANE Select	NP_116023.2:p.Ala417LeufsTer8
NM_001201484.2:c.1249del	NP_001188413.1:p.Ala417LeufsTer8
NM_152850.4:c.1249del	NP_690577.2:p.Ala417LeufsTer8