Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29945656_29945659delinsAATC , CM000668.2:g.29945656_29945659delinsAATC	GRCh38
NC_000006.11:g.29913433_29913436delinsAATC , CM000668.1:g.29913433_29913436delinsAATC	GRCh37
NC_000006.10:g.30021412_30021415delinsAATC	NCBI36
NG_029217.2:g.8192_8195delinsAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.1182_1185delinsAATC	ENSP00000492789.2:n.1182_1185delinsAATC
ENST00000706892.1:n.3008_3011delinsAATC
ENST00000706893.1:c.283_286delinsAATC	ENSP00000516609.1:n.283_286delinsAATC
ENST00000706894.1:c.283_286delinsAATC	ENSP00000516610.1:n.283_286delinsAATC
ENST00000706895.1:n.2288_2291delinsAATC
ENST00000706896.1:n.2595_2598delinsAATC
ENST00000706897.1:n.2017_2020delinsAATC
ENST00000706898.1:c.201_204delinsAATC	ENSP00000516611.1:n.201_204delinsAATC
ENST00000706899.1:n.2153_2156delinsAATC
ENST00000706900.1:c.201_204delinsAATC	ENSP00000516617.1:n.201_204delinsAATC
ENST00000706901.1:c.201_204delinsAATC	ENSP00000516612.1:n.201_204delinsAATC
ENST00000706902.1:c.1093+375_1093+378delinsAATC	ENSP00000516613.1:n.1093+375_1093+378delinsAATC
ENST00000706903.1:c.124+77_124+80delinsAATC	ENSP00000516614.1:n.124+77_124+80delinsAATC
ENST00000706904.1:c.1093+375_1093+378delinsAATC	ENSP00000516615.1:n.1093+375_1093+378delinsAATC
ENST00000706905.1:c.201_204delinsAATC	ENSP00000516616.1:n.201_204delinsAATC
ENST00000376809.10:c.201_204delinsAATC MANE Select	ENSP00000366005.5:n.201_204delinsAATC
ENST00000376802.2:c.201_204delinsAATC	ENSP00000365998.2:n.201_204delinsAATC
ENST00000376806.9:c.201_204delinsAATC	ENSP00000366002.5:n.201_204delinsAATC
ENST00000376809.9:c.201_204delinsAATC	ENSP00000366005.5:n.201_204delinsAATC
ENST00000396634.5:c.201_204delinsAATC	ENSP00000379873.1:n.201_204delinsAATC
ENST00000495183.5:n.1538_1541delinsAATC
ENST00000496081.5:n.1558_1561delinsAATC
NM_002116.7:c.201_204delinsAATC	NP_002107.3:n.201_204delinsAATC
NM_002116.8:c.201_204delinsAATC MANE Select	NP_002107.3:n.201_204delinsAATC

HGVS	Amino-acid Change
ENST00000638375.2:c.1182_1185delinsAATC	ENSP00000492789.2:n.1182_1185delinsAATC
ENST00000706892.1:n.3008_3011delinsAATC
ENST00000706893.1:c.283_286delinsAATC	ENSP00000516609.1:n.283_286delinsAATC
ENST00000706894.1:c.283_286delinsAATC	ENSP00000516610.1:n.283_286delinsAATC
ENST00000706895.1:n.2288_2291delinsAATC
ENST00000706896.1:n.2595_2598delinsAATC
ENST00000706897.1:n.2017_2020delinsAATC
ENST00000706898.1:c.201_204delinsAATC	ENSP00000516611.1:n.201_204delinsAATC
ENST00000706899.1:n.2153_2156delinsAATC
ENST00000706900.1:c.201_204delinsAATC	ENSP00000516617.1:n.201_204delinsAATC
ENST00000706901.1:c.201_204delinsAATC	ENSP00000516612.1:n.201_204delinsAATC
ENST00000706902.1:c.1093+375_1093+378delinsAATC	ENSP00000516613.1:n.1093+375_1093+378delinsAATC
ENST00000706903.1:c.124+77_124+80delinsAATC	ENSP00000516614.1:n.124+77_124+80delinsAATC
ENST00000706904.1:c.1093+375_1093+378delinsAATC	ENSP00000516615.1:n.1093+375_1093+378delinsAATC
ENST00000706905.1:c.201_204delinsAATC	ENSP00000516616.1:n.201_204delinsAATC
ENST00000376809.10:c.201_204delinsAATC MANE Select	ENSP00000366005.5:n.201_204delinsAATC
ENST00000376802.2:c.201_204delinsAATC	ENSP00000365998.2:n.201_204delinsAATC
ENST00000376806.9:c.201_204delinsAATC	ENSP00000366002.5:n.201_204delinsAATC
ENST00000376809.9:c.201_204delinsAATC	ENSP00000366005.5:n.201_204delinsAATC
ENST00000396634.5:c.201_204delinsAATC	ENSP00000379873.1:n.201_204delinsAATC
ENST00000495183.5:n.1538_1541delinsAATC
ENST00000496081.5:n.1558_1561delinsAATC
NM_002116.7:c.201_204delinsAATC	NP_002107.3:n.201_204delinsAATC
NM_002116.8:c.201_204delinsAATC MANE Select	NP_002107.3:n.201_204delinsAATC