Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112766354_112766360delinsTTGAAGA , CM000667.2:g.112766354_112766360delinsTTGAAGA	GRCh38
NC_000005.9:g.112102051_112102057delinsTTGAAGA , CM000667.1:g.112102051_112102057delinsTTGAAGA	GRCh37
NC_000005.8:g.112129950_112129956delinsTTGAAGA	NCBI36
NG_008481.4:g.78834_78840delinsTTGAAGA , LRG_130:g.78834_78840delinsTTGAAGA

Transcript Alleles

HGVS	Amino-acid Change
NM_000038.6:c.164_170delinsTTGAAGA MANE Select	NP_000029.2:p.Ile55=
ENST00000257430.9:c.164_170delinsTTGAAGA MANE Select	ENSP00000257430.4:p.Ile55=
NM_000038.5:c.164_170delinsTTGAAGA	NP_000029.2:p.Ile55=
NM_001127510.2:c.164_170delinsTTGAAGA	NP_001120982.1:p.Ile55=
NM_001127510.3:c.164_170delinsTTGAAGA	NP_001120982.1:p.Ile55=
NM_001127511.2:c.194_200delinsTTGAAGA	NP_001120983.2:p.Ile65=
NM_001127511.3:c.194_200delinsTTGAAGA	NP_001120983.2:p.Ile65=
NM_001354895.1:c.164_170delinsTTGAAGA	NP_001341824.1:p.Ile55=
NM_001354895.2:c.164_170delinsTTGAAGA	NP_001341824.1:p.Ile55=
NM_001354896.1:c.164_170delinsTTGAAGA	NP_001341825.1:p.Ile55=
NM_001354896.2:c.164_170delinsTTGAAGA	NP_001341825.1:p.Ile55=
NM_001354897.1:c.194_200delinsTTGAAGA	NP_001341826.1:p.Ile65=
NM_001354897.2:c.194_200delinsTTGAAGA	NP_001341826.1:p.Ile65=
NM_001354898.1:c.89_95delinsTTGAAGA	NP_001341827.1:p.Ile30=
NM_001354898.2:c.89_95delinsTTGAAGA	NP_001341827.1:p.Ile30=
NM_001354899.1:c.164_170delinsTTGAAGA	NP_001341828.1:p.Ile55=
NM_001354899.2:c.164_170delinsTTGAAGA	NP_001341828.1:p.Ile55=
NM_001354900.1:c.-14_-8delinsTTGAAGA	NP_001341829.1:n.-14_-8delinsTTGAAGA
NM_001354900.2:c.-14_-8delinsTTGAAGA	NP_001341829.1:n.-14_-8delinsTTGAAGA
NM_001354901.1:c.-14_-8delinsTTGAAGA	NP_001341830.1:n.-14_-8delinsTTGAAGA
NM_001354901.2:c.-14_-8delinsTTGAAGA	NP_001341830.1:n.-14_-8delinsTTGAAGA
NM_001354902.1:c.194_200delinsTTGAAGA	NP_001341831.1:p.Ile65=
NM_001354902.2:c.194_200delinsTTGAAGA	NP_001341831.1:p.Ile65=
NM_001354903.1:c.164_170delinsTTGAAGA	NP_001341832.1:p.Ile55=
NM_001354903.2:c.164_170delinsTTGAAGA	NP_001341832.1:p.Ile55=
NM_001354904.1:c.89_95delinsTTGAAGA	NP_001341833.1:p.Ile30=
NM_001354904.2:c.89_95delinsTTGAAGA	NP_001341833.1:p.Ile30=
NM_001354905.1:c.-14_-8delinsTTGAAGA	NP_001341834.1:n.-14_-8delinsTTGAAGA
NM_001354905.2:c.-14_-8delinsTTGAAGA	NP_001341834.1:n.-14_-8delinsTTGAAGA
NM_001354906.1:c.-872_-866delinsTTGAAGA	NP_001341835.1:n.-872_-866delinsTTGAAGA
NM_001354906.2:c.-872_-866delinsTTGAAGA	NP_001341835.1:n.-872_-866delinsTTGAAGA
ENST00000257430.8:c.164_170delinsTTGAAGA	ENSP00000257430.4:p.Ile55=
ENST00000502371.3:c.164_170delinsTTGAAGA	ENSP00000484935.2:p.Ile55=
ENST00000504915.3:c.164_170delinsTTGAAGA	ENSP00000473355.2:p.Ile55=
ENST00000505084.2:n.220_226delinsTTGAAGA
ENST00000505350.1:c.170_176delinsTTGAAGA	ENSP00000481752.1:n.170_176delinsTTGAAGA
ENST00000505350.2:c.170_176delinsTTGAAGA	ENSP00000481752.1:n.170_176delinsTTGAAGA
ENST00000507379.5:c.194_200delinsTTGAAGA	ENSP00000423224.1:p.Ile65=
ENST00000507379.6:c.194_200delinsTTGAAGA	ENSP00000423224.2:p.Ile65=
ENST00000508376.6:c.164_170delinsTTGAAGA	ENSP00000427089.2:p.Ile55=
ENST00000508624.5:c.164_170delinsTTGAAGA	ENSP00000424265.1:p.Ile55=
ENST00000509732.5:c.164_170delinsTTGAAGA	ENSP00000426541.1:p.Ile55=
ENST00000509732.6:c.164_170delinsTTGAAGA	ENSP00000426541.2:p.Ile55=
ENST00000512211.6:c.164_170delinsTTGAAGA	ENSP00000423828.2:p.Ile55=
ENST00000512211.7:c.164_170delinsTTGAAGA	ENSP00000423828.3:p.Ile55=