Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829943_68829948delinsCTTTTT , CM000678.2:g.68829943_68829948delinsCTTTTT	GRCh38
NC_000016.9:g.68863846_68863851delinsCTTTTT , CM000678.1:g.68863846_68863851delinsCTTTTT	GRCh37
NC_000016.8:g.67421347_67421352delinsCTTTTT	NCBI36
NG_008021.1:g.97652_97657delinsCTTTTT , LRG_301:g.97652_97657delinsCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+146_2439+151delinsCTTTTT MANE Select	ENSP00000261769.4:n.2439+146_2439+151delinsCTTTTT
ENST00000261769.9:c.2439+146_2439+151delinsCTTTTT	ENSP00000261769.4:n.2439+146_2439+151delinsCTTTTT
ENST00000422392.6:c.2256+146_2256+151delinsCTTTTT	ENSP00000414946.2:n.2256+146_2256+151delinsCTTTTT
ENST00000562118.1:n.657+146_657+151delinsCTTTTT
ENST00000562836.5:n.2510+146_2510+151delinsCTTTTT
ENST00000566510.5:c.1105+146_1105+151delinsCTTTTT	ENSP00000458139.1:n.1105+146_1105+151delinsCTTTTT
ENST00000566612.5:c.679+146_679+151delinsCTTTTT	ENSP00000454782.1:n.679+146_679+151delinsCTTTTT
ENST00000611625.4:c.2502+146_2502+151delinsCTTTTT	ENSP00000481063.1:n.2502+146_2502+151delinsCTTTTT
ENST00000612417.4:c.1853+3389_1853+3394delinsCTTTTT	ENSP00000478360.1:n.1853+3389_1853+3394delinsCTTTTT
ENST00000621016.4:c.1866-4260_1866-4255delinsCTTTTT	ENSP00000480664.1:n.1866-4260_1866-4255delinsCTTTTT
NM_004360.3:c.2439+146_2439+151delinsCTTTTT , LRG_301t1:c.2439+146_2439+151delinsCTTTTT	NP_004351.1:n.2439+146_2439+151delinsCTTTTT
XM_011523488.1:c.1704+146_1704+151delinsCTTTTT	XP_011521790.1:n.1704+146_1704+151delinsCTTTTT
XM_011523489.1:c.1704+146_1704+151delinsCTTTTT	XP_011521791.1:n.1704+146_1704+151delinsCTTTTT
NM_001317184.1:c.2256+146_2256+151delinsCTTTTT	NP_001304113.1:n.2256+146_2256+151delinsCTTTTT
NM_001317185.1:c.891+146_891+151delinsCTTTTT	NP_001304114.1:n.891+146_891+151delinsCTTTTT
NM_001317186.1:c.474+146_474+151delinsCTTTTT	NP_001304115.1:n.474+146_474+151delinsCTTTTT
NM_004360.4:c.2439+146_2439+151delinsCTTTTT	NP_004351.1:n.2439+146_2439+151delinsCTTTTT
NM_004360.5:c.2439+146_2439+151delinsCTTTTT MANE Select	NP_004351.1:n.2439+146_2439+151delinsCTTTTT
NM_001317184.2:c.2256+146_2256+151delinsCTTTTT	NP_001304113.1:n.2256+146_2256+151delinsCTTTTT
NM_001317185.2:c.891+146_891+151delinsCTTTTT	NP_001304114.1:n.891+146_891+151delinsCTTTTT
NM_001317186.2:c.474+146_474+151delinsCTTTTT	NP_001304115.1:n.474+146_474+151delinsCTTTTT