Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93758839del , CM000672.2:g.93758839del	GRCh38
NC_000010.10:g.95518596del , CM000672.1:g.95518596del	GRCh37
NC_000010.9:g.95508586del	NCBI36
NG_011832.1:g.6031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.287+8del MANE Select	ENSP00000360472.4:n.287+8del
ENST00000635953.1:c.287+8del	ENSP00000490058.1:n.287+8del
ENST00000636140.1:n.72+8del
ENST00000636155.1:c.287+8del	ENSP00000490355.1:n.287+8del
ENST00000636232.1:c.*73+8del	ENSP00000490325.1:n.*73+8del
ENST00000636683.1:n.42+8del
ENST00000636754.1:c.*77+8del	ENSP00000489781.1:n.*77+8del
ENST00000636946.1:c.*4del	ENSP00000490654.1:n.*4del
ENST00000637037.1:c.287+8del	ENSP00000490860.1:n.287+8del
ENST00000637347.1:n.148+151del
ENST00000637611.1:c.287+8del	ENSP00000489682.1:n.287+8del
ENST00000637689.1:c.-1085+8del	ENSP00000490496.1:n.-1085+8del
ENST00000637925.1:c.287+8del	ENSP00000489763.1:n.287+8del
ENST00000638049.1:c.*45+8del	ENSP00000490597.1:n.*45+8del
ENST00000371413.4:c.287+8del	ENSP00000360467.3:n.287+8del
ENST00000371418.8:c.287+8del	ENSP00000360472.4:n.287+8del
ENST00000478763.2:c.*4del	ENSP00000486517.1:n.*4del
ENST00000627420.2:c.*77+8del	ENSP00000487116.1:n.*77+8del
ENST00000627699.1:c.*85del	ENSP00000485868.1:n.*85del
ENST00000629035.2:c.215+480del	ENSP00000486908.1:n.215+480del
ENST00000630047.2:c.287+8del	ENSP00000485917.1:n.287+8del
ENST00000630184.2:c.287+8del	ENSP00000486607.1:n.287+8del
ENST00000630487.2:c.*77+8del	ENSP00000486859.1:n.*77+8del
NM_001308275.1:c.287+8del	NP_001295204.1:n.287+8del
NM_001308276.1:c.287+8del	NP_001295205.1:n.287+8del
NM_005097.2:c.287+8del	NP_005088.1:n.287+8del
NM_005097.3:c.287+8del	NP_005088.1:n.287+8del
NR_131777.1:n.632+8del
XM_017016911.2:c.287+8del	XP_016872400.1:n.287+8del
XM_017016912.2:c.287+8del	XP_016872401.1:n.287+8del
NM_005097.4:c.287+8del MANE Select	NP_005088.1:n.287+8del
NM_001308275.2:c.287+8del	NP_001295204.1:n.287+8del
NM_001308276.2:c.287+8del	NP_001295205.1:n.287+8del
NR_131777.2:n.505+8del