Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829956_68829959delinsTTTC , CM000678.2:g.68829956_68829959delinsTTTC	GRCh38
NC_000016.9:g.68863859_68863862delinsTTTC , CM000678.1:g.68863859_68863862delinsTTTC	GRCh37
NC_000016.8:g.67421360_67421363delinsTTTC	NCBI36
NG_008021.1:g.97665_97668delinsTTTC , LRG_301:g.97665_97668delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+159_2439+162delinsTTTC MANE Select	ENSP00000261769.4:n.2439+159_2439+162delinsTTTC
ENST00000261769.9:c.2439+159_2439+162delinsTTTC	ENSP00000261769.4:n.2439+159_2439+162delinsTTTC
ENST00000422392.6:c.2256+159_2256+162delinsTTTC	ENSP00000414946.2:n.2256+159_2256+162delinsTTTC
ENST00000562118.1:n.657+159_657+162delinsTTTC
ENST00000562836.5:n.2510+159_2510+162delinsTTTC
ENST00000566510.5:c.1105+159_1105+162delinsTTTC	ENSP00000458139.1:n.1105+159_1105+162delinsTTTC
ENST00000566612.5:c.679+159_679+162delinsTTTC	ENSP00000454782.1:n.679+159_679+162delinsTTTC
ENST00000611625.4:c.2502+159_2502+162delinsTTTC	ENSP00000481063.1:n.2502+159_2502+162delinsTTTC
ENST00000612417.4:c.1853+3402_1853+3405delinsTTTC	ENSP00000478360.1:n.1853+3402_1853+3405delinsTTTC
ENST00000621016.4:c.1866-4247_1866-4244delinsTTTC	ENSP00000480664.1:n.1866-4247_1866-4244delinsTTTC
NM_004360.3:c.2439+159_2439+162delinsTTTC , LRG_301t1:c.2439+159_2439+162delinsTTTC	NP_004351.1:n.2439+159_2439+162delinsTTTC
XM_011523488.1:c.1704+159_1704+162delinsTTTC	XP_011521790.1:n.1704+159_1704+162delinsTTTC
XM_011523489.1:c.1704+159_1704+162delinsTTTC	XP_011521791.1:n.1704+159_1704+162delinsTTTC
NM_001317184.1:c.2256+159_2256+162delinsTTTC	NP_001304113.1:n.2256+159_2256+162delinsTTTC
NM_001317185.1:c.891+159_891+162delinsTTTC	NP_001304114.1:n.891+159_891+162delinsTTTC
NM_001317186.1:c.474+159_474+162delinsTTTC	NP_001304115.1:n.474+159_474+162delinsTTTC
NM_004360.4:c.2439+159_2439+162delinsTTTC	NP_004351.1:n.2439+159_2439+162delinsTTTC
NM_004360.5:c.2439+159_2439+162delinsTTTC MANE Select	NP_004351.1:n.2439+159_2439+162delinsTTTC
NM_001317184.2:c.2256+159_2256+162delinsTTTC	NP_001304113.1:n.2256+159_2256+162delinsTTTC
NM_001317185.2:c.891+159_891+162delinsTTTC	NP_001304114.1:n.891+159_891+162delinsTTTC
NM_001317186.2:c.474+159_474+162delinsTTTC	NP_001304115.1:n.474+159_474+162delinsTTTC