Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221602_7221605del , CM000679.2:g.7221602_7221605del	GRCh38
NC_000017.10:g.7124921_7124924del , CM000679.1:g.7124921_7124924del	GRCh37
NC_000017.9:g.7065645_7065648del	NCBI36
NG_007975.1:g.6769_6772del
NG_008391.2:g.3446_3449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.542_545del MANE Select	ENSP00000349297.5:p.His181ArgfsTer?
ENST00000322910.9:c.497_500del	ENSP00000325395.5:n.497_500del
ENST00000350303.9:c.476_479del	ENSP00000344152.5:p.His159ArgfsTer?
ENST00000356839.9:c.542_545del	ENSP00000349297.5:p.His181ArgfsTer?
ENST00000543245.6:c.611_614del	ENSP00000438689.2:p.His204ArgfsTer?
ENST00000577191.5:n.619_622del
ENST00000577433.5:n.750_753del
ENST00000577857.5:n.358_361del
ENST00000579286.5:n.723_726del
ENST00000579886.2:c.380_383del	ENSP00000463246.1:p.His127ArgfsTer?
ENST00000580365.1:n.273_276del
ENST00000581378.5:c.260_263del
ENST00000581562.5:n.525-350_525-347del
ENST00000582166.1:n.523_526del
ENST00000583312.5:c.542_545del	ENSP00000467920.1:p.His181ArgfsTer?
ENST00000583760.1:n.324_327del
NM_000018.3:c.542_545del	NP_000009.1:p.His181ArgfsTer?
NM_001033859.2:c.476_479del	NP_001029031.1:p.His159ArgfsTer?
NM_001270447.1:c.611_614del	NP_001257376.1:p.His204ArgfsTer?
NM_001270448.1:c.314_317del	NP_001257377.1:p.His105ArgfsTer?
XM_006721516.2:c.542_545del	XP_006721579.2:p.His181ArgfsTer?
XM_011523829.1:c.542_545del	XP_011522131.1:p.His181ArgfsTer?
XM_011523830.1:c.542_545del	XP_011522132.1:p.His181ArgfsTer?
XR_934021.1:n.649_652del
XR_934022.1:n.649_652del
XR_934023.1:n.649_652del
XM_006721516.3:c.542_545del	XP_006721579.2:p.His181ArgfsTer?
XM_011523829.2:c.542_545del	XP_011522131.1:p.His181ArgfsTer?
XM_011523830.2:c.542_545del	XP_011522132.1:p.His181ArgfsTer?
XM_024450741.1:c.542_545del	XP_024306509.1:p.His181ArgfsTer?
XR_934021.2:n.601_604del
XR_934022.2:n.601_604del
XR_934023.2:n.601_604del
NM_000018.4:c.542_545del MANE Select	NP_000009.1:p.His181ArgfsTer?
NM_001033859.3:c.476_479del	NP_001029031.1:p.His159ArgfsTer?
NM_001270447.2:c.611_614del	NP_001257376.1:p.His204ArgfsTer?
NM_001270448.2:c.314_317del	NP_001257377.1:p.His105ArgfsTer?