Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810303_68810314delinsAGGTCTTTAAGG , CM000678.2:g.68810303_68810314delinsAGGTCTTTAAGG	GRCh38
NC_000016.9:g.68844206_68844217delinsAGGTCTTTAAGG , CM000678.1:g.68844206_68844217delinsAGGTCTTTAAGG	GRCh37
NC_000016.8:g.67401707_67401718delinsAGGTCTTTAAGG	NCBI36
NG_008021.1:g.78012_78023delinsAGGTCTTTAAGG , LRG_301:g.78012_78023delinsAGGTCTTTAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.794_805delinsAGGTCTTTAAGG MANE Select	ENSP00000261769.4:p.Glu265=
ENST00000261769.9:c.794_805delinsAGGTCTTTAAGG	ENSP00000261769.4:p.Glu265=
ENST00000422392.6:c.794_805delinsAGGTCTTTAAGG	ENSP00000414946.2:p.Glu265=
ENST00000561751.1:c.455-1381_455-1370delinsAGGTCTTTAAGG
ENST00000562836.5:n.865_876delinsAGGTCTTTAAGG
ENST00000566510.5:c.638_649delinsAGGTCTTTAAGG	ENSP00000458139.1:p.Glu213=
ENST00000566612.5:c.794_805delinsAGGTCTTTAAGG	ENSP00000454782.1:p.Glu265=
ENST00000611625.4:c.794_805delinsAGGTCTTTAAGG	ENSP00000481063.1:p.Glu265=
ENST00000612417.4:c.794_805delinsAGGTCTTTAAGG	ENSP00000478360.1:p.Glu265=
ENST00000621016.4:c.794_805delinsAGGTCTTTAAGG	ENSP00000480664.1:p.Glu265=
NM_004360.3:c.794_805delinsAGGTCTTTAAGG , LRG_301t1:c.794_805delinsAGGTCTTTAAGG	NP_004351.1:p.Glu265=
XM_011523488.1:c.59_70delinsAGGTCTTTAAGG	XP_011521790.1:p.Glu20=
XM_011523489.1:c.59_70delinsAGGTCTTTAAGG	XP_011521791.1:p.Glu20=
NM_001317184.1:c.794_805delinsAGGTCTTTAAGG	NP_001304113.1:p.Glu265=
NM_001317185.1:c.-822_-811delinsAGGTCTTTAAGG	NP_001304114.1:n.-822_-811delinsAGGTCTTTAAGG
NM_001317186.1:c.-1026_-1015delinsAGGTCTTTAAGG	NP_001304115.1:n.-1026_-1015delinsAGGTCTTTAAGG
NM_004360.4:c.794_805delinsAGGTCTTTAAGG	NP_004351.1:p.Glu265=
NM_004360.5:c.794_805delinsAGGTCTTTAAGG MANE Select	NP_004351.1:p.Glu265=
NM_001317184.2:c.794_805delinsAGGTCTTTAAGG	NP_001304113.1:p.Glu265=
NM_001317185.2:c.-822_-811delinsAGGTCTTTAAGG	NP_001304114.1:n.-822_-811delinsAGGTCTTTAAGG
NM_001317186.2:c.-1026_-1015delinsAGGTCTTTAAGG	NP_001304115.1:n.-1026_-1015delinsAGGTCTTTAAGG