Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222246_7222270delinsCGTGAAGGAGAAGATCACAGCTTTT , CM000679.2:g.7222246_7222270delinsCGTGAAGGAGAAGATCACAGCTTTT	GRCh38
NC_000017.10:g.7125565_7125589delinsCGTGAAGGAGAAGATCACAGCTTTT , CM000679.1:g.7125565_7125589delinsCGTGAAGGAGAAGATCACAGCTTTT	GRCh37
NC_000017.9:g.7066289_7066313delinsCGTGAAGGAGAAGATCACAGCTTTT	NCBI36
NG_007975.1:g.7413_7437delinsCGTGAAGGAGAAGATCACAGCTTTT
NG_008391.2:g.2781_2805delinsAAAAGCTGTGATCTTCTCCTTCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT MANE Select	ENSP00000349297.5:p.Ala274=
ENST00000322910.9:c.777_801delinsCGTGAAGGAGAAGATCACAGCTTTT	ENSP00000325395.5:n.777_801delinsCGTGAAGGAGAAGATCACAGCTTTT
ENST00000350303.9:c.756_780delinsCGTGAAGGAGAAGATCACAGCTTTT	ENSP00000344152.5:p.Ala252=
ENST00000356839.9:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	ENSP00000349297.5:p.Ala274=
ENST00000543245.6:c.891_915delinsCGTGAAGGAGAAGATCACAGCTTTT	ENSP00000438689.2:p.Ala297=
ENST00000577191.5:n.994_1018delinsCGTGAAGGAGAAGATCACAGCTTTT
ENST00000581378.5:c.540_564delinsCGTGAAGGAGAAGATCACAGCTTTT
ENST00000582379.1:n.206_230delinsCGTGAAGGAGAAGATCACAGCTTTT
NM_000018.3:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	NP_000009.1:p.Ala274=
NM_001033859.2:c.756_780delinsCGTGAAGGAGAAGATCACAGCTTTT	NP_001029031.1:p.Ala252=
NM_001270447.1:c.891_915delinsCGTGAAGGAGAAGATCACAGCTTTT	NP_001257376.1:p.Ala297=
NM_001270448.1:c.594_618delinsCGTGAAGGAGAAGATCACAGCTTTT	NP_001257377.1:p.Ala198=
XM_006721516.2:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	XP_006721579.2:p.Ala274=
XM_011523829.1:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	XP_011522131.1:p.Ala274=
XM_011523830.1:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	XP_011522132.1:p.Ala274=
XR_934021.1:n.929_953delinsCGTGAAGGAGAAGATCACAGCTTTT
XR_934022.1:n.929_953delinsCGTGAAGGAGAAGATCACAGCTTTT
XR_934023.1:n.929_953delinsCGTGAAGGAGAAGATCACAGCTTTT
XM_006721516.3:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	XP_006721579.2:p.Ala274=
XM_011523829.2:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	XP_011522131.1:p.Ala274=
XM_011523830.2:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	XP_011522132.1:p.Ala274=
XM_024450741.1:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT	XP_024306509.1:p.Ala274=
XR_934021.2:n.881_905delinsCGTGAAGGAGAAGATCACAGCTTTT
XR_934022.2:n.881_905delinsCGTGAAGGAGAAGATCACAGCTTTT
XR_934023.2:n.881_905delinsCGTGAAGGAGAAGATCACAGCTTTT
NM_000018.4:c.822_846delinsCGTGAAGGAGAAGATCACAGCTTTT MANE Select	NP_000009.1:p.Ala274=
NM_001033859.3:c.756_780delinsCGTGAAGGAGAAGATCACAGCTTTT	NP_001029031.1:p.Ala252=
NM_001270447.2:c.891_915delinsCGTGAAGGAGAAGATCACAGCTTTT	NP_001257376.1:p.Ala297=
NM_001270448.2:c.594_618delinsCGTGAAGGAGAAGATCACAGCTTTT	NP_001257377.1:p.Ala198=