Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33743920_33743921del , CM000680.2:g.33743920_33743921del	GRCh38
NC_000018.9:g.31323884_31323885del , CM000680.1:g.31323884_31323885del	GRCh37
NC_000018.8:g.29577882_29577883del	NCBI36
NG_055244.1:g.170344_170345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4075_4076del	ENSP00000513003.1:p.Val1359LeufsTer8
ENST00000269197.12:c.4072_4073del MANE Select	ENSP00000269197.4:p.Val1358LeufsTer8
ENST00000681521.1:c.3952_3953del	ENSP00000506037.1:p.Val1318LeufsTer8
ENST00000269197.9:c.4072_4073del	ENSP00000269197.4:p.Val1358LeufsTer8
NM_030632.1:c.4072_4073del	NP_085135.1:p.Val1358LeufsTer8
XM_005258356.1:c.4075_4076del	XP_005258413.1:p.Val1359LeufsTer8
XM_011526205.1:c.4048_4049del	XP_011524507.1:p.Val1350LeufsTer8
XM_011526206.1:c.3994_3995del	XP_011524508.1:p.Val1332LeufsTer8
XM_011526207.1:c.3994_3995del	XP_011524509.1:p.Val1332LeufsTer8
XM_011526208.1:c.3955_3956del	XP_011524510.1:p.Val1319LeufsTer8
XM_011526209.1:c.3904_3905del	XP_011524511.1:p.Val1302LeufsTer8
XM_011526210.1:c.3904_3905del	XP_011524512.1:p.Val1302LeufsTer8
XM_011526211.1:c.3904_3905del	XP_011524513.1:p.Val1302LeufsTer8
XM_011526212.1:c.3904_3905del	XP_011524514.1:p.Val1302LeufsTer8
XM_011526213.1:c.3904_3905del	XP_011524515.1:p.Val1302LeufsTer8
XM_011526214.1:c.3904_3905del	XP_011524516.1:p.Val1302LeufsTer8
XM_011526215.1:c.1036_1037del	XP_011524517.1:p.Val346LeufsTer8
NM_030632.2:c.4072_4073del	NP_085135.1:p.Val1358LeufsTer8
XM_011526205.2:c.4048_4049del	XP_011524507.1:p.Val1350LeufsTer8
XM_011526206.2:c.3994_3995del	XP_011524508.1:p.Val1332LeufsTer8
XM_011526213.2:c.3904_3905del	XP_011524515.1:p.Val1302LeufsTer8
XM_017026012.1:c.3994_3995del	XP_016881501.1:p.Val1332LeufsTer8
XM_017026013.1:c.3904_3905del	XP_016881502.1:p.Val1302LeufsTer8
XM_017026014.2:c.3904_3905del	XP_016881503.1:p.Val1302LeufsTer8
XM_024451269.1:c.3904_3905del	XP_024307037.1:p.Val1302LeufsTer8
NM_030632.3:c.4072_4073del MANE Select	NP_085135.1:p.Val1358LeufsTer8