Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377132del , CM000671.2:g.377132del	GRCh38
NC_000009.11:g.377132del , CM000671.1:g.377132del	GRCh37
NC_000009.10:g.367132del	NCBI36
NG_017007.1:g.167268del , LRG_196:g.167268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2157del	ENSP00000371766.2:p.Leu720SerfsTer?
ENST00000382331.6:n.858del
ENST00000483757.6:c.*1048del	ENSP00000417691.2:n.*1048del
ENST00000682260.1:n.2257del
ENST00000685949.1:n.1149del
ENST00000432829.7:c.2361del MANE Select	ENSP00000394888.3:p.Leu788SerfsTer?
ENST00000382329.1:c.762del	ENSP00000371766.1:p.Leu255SerfsTer?
ENST00000382331.5:c.267del	ENSP00000371768.1:p.Leu90SerfsTer?
ENST00000432829.6:c.2361del	ENSP00000394888.3:p.Leu788SerfsTer?
ENST00000453981.5:c.2157del	ENSP00000408464.2:p.Leu720SerfsTer?
ENST00000469391.5:c.2157del	ENSP00000419438.1:p.Leu720SerfsTer?
ENST00000483757.5:c.*1836del	ENSP00000417691.1:n.*1836del
ENST00000495184.5:n.4316del
NM_001190458.1:c.2157del	NP_001177387.1:p.Leu720SerfsTer?
NM_001193536.1:c.2157del	NP_001180465.1:p.Leu720SerfsTer?
NM_203447.3:c.2361del , LRG_196t1:c.2361del	NP_982272.2:p.Leu788SerfsTer?
XM_011518045.1:c.2157del	XP_011516347.1:p.Leu720SerfsTer?
XM_011518046.1:c.2223del	XP_011516348.1:p.Leu742SerfsTer?
XM_011518047.1:c.2157del	XP_011516349.1:p.Leu720SerfsTer?
XM_011518048.1:c.2157del	XP_011516350.1:p.Leu720SerfsTer?
XM_011518049.1:c.597del	XP_011516351.1:p.Leu200SerfsTer?
XM_011518045.3:c.2157del	XP_011516347.1:p.Leu720SerfsTer?
XM_011518046.2:c.2223del	XP_011516348.1:p.Leu742SerfsTer?
XM_011518047.3:c.2157del	XP_011516349.1:p.Leu720SerfsTer?
XM_011518048.2:c.2157del	XP_011516350.1:p.Leu720SerfsTer?
XM_011518049.2:c.597del	XP_011516351.1:p.Leu200SerfsTer?
XM_017015173.1:c.2157del	XP_016870662.1:p.Leu720SerfsTer?
XM_017015174.1:c.2223del	XP_016870663.1:p.Leu742SerfsTer?
NM_001190458.2:c.2157del	NP_001177387.1:p.Leu720SerfsTer?
NM_001193536.2:c.2157del	NP_001180465.1:p.Leu720SerfsTer?
NM_203447.4:c.2361del MANE Select	NP_982272.2:p.Leu788SerfsTer?