Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829886_68829891delinsTCTTTC , CM000678.2:g.68829886_68829891delinsTCTTTC	GRCh38
NC_000016.9:g.68863789_68863794delinsTCTTTC , CM000678.1:g.68863789_68863794delinsTCTTTC	GRCh37
NC_000016.8:g.67421290_67421295delinsTCTTTC	NCBI36
NG_008021.1:g.97595_97600delinsTCTTTC , LRG_301:g.97595_97600delinsTCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+89_2439+94delinsTCTTTC MANE Select	ENSP00000261769.4:n.2439+89_2439+94delinsTCTTTC
ENST00000261769.9:c.2439+89_2439+94delinsTCTTTC	ENSP00000261769.4:n.2439+89_2439+94delinsTCTTTC
ENST00000422392.6:c.2256+89_2256+94delinsTCTTTC	ENSP00000414946.2:n.2256+89_2256+94delinsTCTTTC
ENST00000562118.1:n.657+89_657+94delinsTCTTTC
ENST00000562836.5:n.2510+89_2510+94delinsTCTTTC
ENST00000566510.5:c.1105+89_1105+94delinsTCTTTC	ENSP00000458139.1:n.1105+89_1105+94delinsTCTTTC
ENST00000566612.5:c.679+89_679+94delinsTCTTTC	ENSP00000454782.1:n.679+89_679+94delinsTCTTTC
ENST00000611625.4:c.2502+89_2502+94delinsTCTTTC	ENSP00000481063.1:n.2502+89_2502+94delinsTCTTTC
ENST00000612417.4:c.1853+3332_1853+3337delinsTCTTTC	ENSP00000478360.1:n.1853+3332_1853+3337delinsTCTTTC
ENST00000621016.4:c.1866-4317_1866-4312delinsTCTTTC	ENSP00000480664.1:n.1866-4317_1866-4312delinsTCTTTC
NM_004360.3:c.2439+89_2439+94delinsTCTTTC , LRG_301t1:c.2439+89_2439+94delinsTCTTTC	NP_004351.1:n.2439+89_2439+94delinsTCTTTC
XM_011523488.1:c.1704+89_1704+94delinsTCTTTC	XP_011521790.1:n.1704+89_1704+94delinsTCTTTC
XM_011523489.1:c.1704+89_1704+94delinsTCTTTC	XP_011521791.1:n.1704+89_1704+94delinsTCTTTC
NM_001317184.1:c.2256+89_2256+94delinsTCTTTC	NP_001304113.1:n.2256+89_2256+94delinsTCTTTC
NM_001317185.1:c.891+89_891+94delinsTCTTTC	NP_001304114.1:n.891+89_891+94delinsTCTTTC
NM_001317186.1:c.474+89_474+94delinsTCTTTC	NP_001304115.1:n.474+89_474+94delinsTCTTTC
NM_004360.4:c.2439+89_2439+94delinsTCTTTC	NP_004351.1:n.2439+89_2439+94delinsTCTTTC
NM_004360.5:c.2439+89_2439+94delinsTCTTTC MANE Select	NP_004351.1:n.2439+89_2439+94delinsTCTTTC
NM_001317184.2:c.2256+89_2256+94delinsTCTTTC	NP_001304113.1:n.2256+89_2256+94delinsTCTTTC
NM_001317185.2:c.891+89_891+94delinsTCTTTC	NP_001304114.1:n.891+89_891+94delinsTCTTTC
NM_001317186.2:c.474+89_474+94delinsTCTTTC	NP_001304115.1:n.474+89_474+94delinsTCTTTC