Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265258del , CM000679.2:g.31265258del	GRCh38
NC_000017.10:g.29592276del , CM000679.1:g.29592276del	GRCh37
NC_000017.9:g.26616402del	NCBI36
NG_009018.1:g.175282del , LRG_214:g.175282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.556del	ENSP00000492721.2:n.556del
ENST00000696138.1:c.4736del	ENSP00000512431.1:p.Lys1579ArgfsTer3
ENST00000696140.1:n.860del
ENST00000696141.1:c.745del
ENST00000687863.1:n.1399del
ENST00000691014.1:c.4784del	ENSP00000510595.1:p.Lys1595ArgfsTer3
ENST00000358273.9:c.4754del MANE Select	ENSP00000351015.4:p.Lys1585ArgfsTer3
ENST00000356175.7:c.4691del	ENSP00000348498.3:p.Lys1564ArgfsTer3
ENST00000358273.8:c.4754del	ENSP00000351015.4:p.Lys1585ArgfsTer3
ENST00000456735.6:c.3689del	ENSP00000389907.2:p.Lys1230ArgfsTer3
ENST00000493220.5:n.3227del
ENST00000579081.5:c.4793del	ENSP00000462408.1:p.Lys1598ArgfsTer3
NM_000267.3:c.4691del , LRG_214t1:c.4691del	NP_000258.1:p.Lys1564ArgfsTer3
NM_001042492.2:c.4754del , LRG_214t2:c.4754del	NP_001035957.1:p.Lys1585ArgfsTer3
XM_005257983.1:c.4754del	XP_005258040.1:p.Lys1585ArgfsTer3
XM_005257984.1:c.4691del	XP_005258041.1:p.Lys1564ArgfsTer3
XM_006721922.1:c.4784del	XP_006721985.1:p.Lys1595ArgfsTer3
XM_006721923.2:c.4745del	XP_006721986.1:p.Lys1582ArgfsTer3
XM_006721924.1:c.4784del	XP_006721987.1:p.Lys1595ArgfsTer3
XM_006721925.1:c.4721del	XP_006721988.1:p.Lys1574ArgfsTer3
XM_006721926.2:c.4784del	XP_006721989.1:p.Lys1595ArgfsTer3
XM_006721927.1:c.4784del	XP_006721990.1:p.Lys1595ArgfsTer3
XM_006721928.2:c.4784del	XP_006721991.1:p.Lys1595ArgfsTer3
XM_011524852.1:c.4781del	XP_011523154.1:p.Lys1594ArgfsTer3
XM_011524853.1:c.4745del	XP_011523155.1:p.Lys1582ArgfsTer3
XM_011524854.1:c.4745del	XP_011523156.1:p.Lys1582ArgfsTer3
XM_011524855.1:c.4745del	XP_011523157.1:p.Lys1582ArgfsTer3
XM_011524856.1:c.4745del	XP_011523158.1:p.Lys1582ArgfsTer3
XM_011524857.1:c.4784del	XP_011523159.1:p.Lys1595ArgfsTer3
NM_001042492.3:c.4754del MANE Select	NP_001035957.1:p.Lys1585ArgfsTer3