Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829945_68829959delinsTTTTTTTTCTTTTTC , CM000678.2:g.68829945_68829959delinsTTTTTTTTCTTTTTC	GRCh38
NC_000016.9:g.68863848_68863862delinsTTTTTTTTCTTTTTC , CM000678.1:g.68863848_68863862delinsTTTTTTTTCTTTTTC	GRCh37
NC_000016.8:g.67421349_67421363delinsTTTTTTTTCTTTTTC	NCBI36
NG_008021.1:g.97654_97668delinsTTTTTTTTCTTTTTC , LRG_301:g.97654_97668delinsTTTTTTTTCTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+148_2439+162delinsTTTTTTTTCTTTTTC MANE Select	ENSP00000261769.4:n.2439+148_2439+162delinsTTTTTTTTCTTTTTC
ENST00000261769.9:c.2439+148_2439+162delinsTTTTTTTTCTTTTTC	ENSP00000261769.4:n.2439+148_2439+162delinsTTTTTTTTCTTTTTC
ENST00000422392.6:c.2256+148_2256+162delinsTTTTTTTTCTTTTTC	ENSP00000414946.2:n.2256+148_2256+162delinsTTTTTTTTCTTTTTC
ENST00000562118.1:n.657+148_657+162delinsTTTTTTTTCTTTTTC
ENST00000562836.5:n.2510+148_2510+162delinsTTTTTTTTCTTTTTC
ENST00000566510.5:c.1105+148_1105+162delinsTTTTTTTTCTTTTTC	ENSP00000458139.1:n.1105+148_1105+162delinsTTTTTTTTCTTTTTC
ENST00000566612.5:c.679+148_679+162delinsTTTTTTTTCTTTTTC	ENSP00000454782.1:n.679+148_679+162delinsTTTTTTTTCTTTTTC
ENST00000611625.4:c.2502+148_2502+162delinsTTTTTTTTCTTTTTC	ENSP00000481063.1:n.2502+148_2502+162delinsTTTTTTTTCTTTTTC
ENST00000612417.4:c.1853+3391_1853+3405delinsTTTTTTTTCTTTTTC	ENSP00000478360.1:n.1853+3391_1853+3405delinsTTTTTTTTCTTTTTC
ENST00000621016.4:c.1866-4258_1866-4244delinsTTTTTTTTCTTTTTC	ENSP00000480664.1:n.1866-4258_1866-4244delinsTTTTTTTTCTTTTTC
NM_004360.3:c.2439+148_2439+162delinsTTTTTTTTCTTTTTC , LRG_301t1:c.2439+148_2439+162delinsTTTTTTTTCTTTTTC	NP_004351.1:n.2439+148_2439+162delinsTTTTTTTTCTTTTTC
XM_011523488.1:c.1704+148_1704+162delinsTTTTTTTTCTTTTTC	XP_011521790.1:n.1704+148_1704+162delinsTTTTTTTTCTTTTTC
XM_011523489.1:c.1704+148_1704+162delinsTTTTTTTTCTTTTTC	XP_011521791.1:n.1704+148_1704+162delinsTTTTTTTTCTTTTTC
NM_001317184.1:c.2256+148_2256+162delinsTTTTTTTTCTTTTTC	NP_001304113.1:n.2256+148_2256+162delinsTTTTTTTTCTTTTTC
NM_001317185.1:c.891+148_891+162delinsTTTTTTTTCTTTTTC	NP_001304114.1:n.891+148_891+162delinsTTTTTTTTCTTTTTC
NM_001317186.1:c.474+148_474+162delinsTTTTTTTTCTTTTTC	NP_001304115.1:n.474+148_474+162delinsTTTTTTTTCTTTTTC
NM_004360.4:c.2439+148_2439+162delinsTTTTTTTTCTTTTTC	NP_004351.1:n.2439+148_2439+162delinsTTTTTTTTCTTTTTC
NM_004360.5:c.2439+148_2439+162delinsTTTTTTTTCTTTTTC MANE Select	NP_004351.1:n.2439+148_2439+162delinsTTTTTTTTCTTTTTC
NM_001317184.2:c.2256+148_2256+162delinsTTTTTTTTCTTTTTC	NP_001304113.1:n.2256+148_2256+162delinsTTTTTTTTCTTTTTC
NM_001317185.2:c.891+148_891+162delinsTTTTTTTTCTTTTTC	NP_001304114.1:n.891+148_891+162delinsTTTTTTTTCTTTTTC
NM_001317186.2:c.474+148_474+162delinsTTTTTTTTCTTTTTC	NP_001304115.1:n.474+148_474+162delinsTTTTTTTTCTTTTTC