Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222587_7222595delinsATAAGGAGC , CM000679.2:g.7222587_7222595delinsATAAGGAGC	GRCh38
NC_000017.10:g.7125906_7125914delinsATAAGGAGC , CM000679.1:g.7125906_7125914delinsATAAGGAGC	GRCh37
NC_000017.9:g.7066630_7066638delinsATAAGGAGC	NCBI36
NG_007975.1:g.7754_7762delinsATAAGGAGC
NG_008391.2:g.2456_2464delinsGCTCCTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.879-80_879-72delinsATAAGGAGC MANE Select	ENSP00000349297.5:n.879-80_879-72delinsATAAGGAGC
ENST00000322910.9:c.834-80_834-72delinsATAAGGAGC	ENSP00000325395.5:n.834-80_834-72delinsATAAGGAGC
ENST00000350303.9:c.813-80_813-72delinsATAAGGAGC	ENSP00000344152.5:n.813-80_813-72delinsATAAGGAGC
ENST00000356839.9:c.879-80_879-72delinsATAAGGAGC	ENSP00000349297.5:n.879-80_879-72delinsATAAGGAGC
ENST00000543245.6:c.948-80_948-72delinsATAAGGAGC	ENSP00000438689.2:n.948-80_948-72delinsATAAGGAGC
ENST00000581378.5:c.597-80_597-72delinsATAAGGAGC
ENST00000582379.1:n.263-80_263-72delinsATAAGGAGC
NM_000018.3:c.879-80_879-72delinsATAAGGAGC	NP_000009.1:n.879-80_879-72delinsATAAGGAGC
NM_001033859.2:c.813-80_813-72delinsATAAGGAGC	NP_001029031.1:n.813-80_813-72delinsATAAGGAGC
NM_001270447.1:c.948-80_948-72delinsATAAGGAGC	NP_001257376.1:n.948-80_948-72delinsATAAGGAGC
NM_001270448.1:c.651-80_651-72delinsATAAGGAGC	NP_001257377.1:n.651-80_651-72delinsATAAGGAGC
XM_006721516.2:c.879-80_879-72delinsATAAGGAGC	XP_006721579.2:n.879-80_879-72delinsATAAGGAGC
XM_011523829.1:c.879-80_879-72delinsATAAGGAGC	XP_011522131.1:n.879-80_879-72delinsATAAGGAGC
XM_011523830.1:c.879-80_879-72delinsATAAGGAGC	XP_011522132.1:n.879-80_879-72delinsATAAGGAGC
XR_934021.1:n.986-80_986-72delinsATAAGGAGC
XR_934022.1:n.986-80_986-72delinsATAAGGAGC
XR_934023.1:n.986-80_986-72delinsATAAGGAGC
XM_006721516.3:c.879-80_879-72delinsATAAGGAGC	XP_006721579.2:n.879-80_879-72delinsATAAGGAGC
XM_011523829.2:c.879-80_879-72delinsATAAGGAGC	XP_011522131.1:n.879-80_879-72delinsATAAGGAGC
XM_011523830.2:c.879-80_879-72delinsATAAGGAGC	XP_011522132.1:n.879-80_879-72delinsATAAGGAGC
XM_024450741.1:c.879-80_879-72delinsATAAGGAGC	XP_024306509.1:n.879-80_879-72delinsATAAGGAGC
XR_934021.2:n.938-80_938-72delinsATAAGGAGC
XR_934022.2:n.938-80_938-72delinsATAAGGAGC
XR_934023.2:n.938-80_938-72delinsATAAGGAGC
NM_000018.4:c.879-80_879-72delinsATAAGGAGC MANE Select	NP_000009.1:n.879-80_879-72delinsATAAGGAGC
NM_001033859.3:c.813-80_813-72delinsATAAGGAGC	NP_001029031.1:n.813-80_813-72delinsATAAGGAGC
NM_001270447.2:c.948-80_948-72delinsATAAGGAGC	NP_001257376.1:n.948-80_948-72delinsATAAGGAGC
NM_001270448.2:c.651-80_651-72delinsATAAGGAGC	NP_001257377.1:n.651-80_651-72delinsATAAGGAGC