Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274769del , CM000664.2:g.233274769del	GRCh38
NC_000002.11:g.234183415del , CM000664.1:g.234183415del	GRCh37
NC_000002.10:g.233848154del	NCBI36
NG_023038.1:g.28199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.945del MANE Select	ENSP00000375872.4:p.Leu315PhefsTer?
ENST00000347464.9:c.456del	ENSP00000318259.6:p.Leu152PhefsTer?
ENST00000373525.9:c.513del	ENSP00000362625.5:p.Leu171PhefsTer?
ENST00000392017.8:c.945del	ENSP00000375872.4:p.Leu315PhefsTer?
ENST00000392018.1:c.996del	ENSP00000375873.1:p.Leu332PhefsTer?
ENST00000392020.8:c.888del	ENSP00000375875.4:p.Leu296PhefsTer?
ENST00000392021.7:c.*826del	ENSP00000375876.3:n.*826del
ENST00000419681.5:c.456del	ENSP00000398773.1:p.Leu152PhefsTer?
ENST00000474148.5:n.1740del
ENST00000479942.5:n.1091del
ENST00000492298.5:n.466del
ENST00000498620.5:n.452del
NM_001190266.1:c.693del	NP_001177195.1:p.Leu231PhefsTer?
NM_001190267.1:c.597del	NP_001177196.1:p.Leu199PhefsTer?
NM_017974.3:c.888del	NP_060444.3:p.Leu296PhefsTer?
NM_030803.6:c.945del	NP_110430.5:p.Leu315PhefsTer?
NM_198890.2:c.456del	NP_942593.2:p.Leu152PhefsTer?
XM_005246082.1:c.996del	XP_005246139.1:p.Leu332PhefsTer?
XM_005246084.1:c.564del	XP_005246141.1:p.Leu188PhefsTer?
XM_005246086.1:c.513del	XP_005246143.1:p.Leu171PhefsTer?
XM_006712608.1:c.744del	XP_006712671.1:p.Leu248PhefsTer?
XR_241242.1:n.1190del
NM_001363742.1:c.996del	NP_001350671.1:p.Leu332PhefsTer?
XM_005246084.2:c.564del	XP_005246141.1:p.Leu188PhefsTer?
XM_005246086.2:c.513del	XP_005246143.1:p.Leu171PhefsTer?
XM_006712608.3:c.744del	XP_006712671.1:p.Leu248PhefsTer?
XR_001738801.2:n.1126del
XR_241242.3:n.1177del
NM_030803.7:c.945del MANE Select	NP_110430.5:p.Leu315PhefsTer?
NM_001190266.2:c.693del	NP_001177195.1:p.Leu231PhefsTer?
NM_001190267.2:c.597del	NP_001177196.1:p.Leu199PhefsTer?
NM_001363742.2:c.996del	NP_001350671.1:p.Leu332PhefsTer?
NM_017974.4:c.888del	NP_060444.3:p.Leu296PhefsTer?
NM_198890.3:c.456del	NP_942593.2:p.Leu152PhefsTer?