Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829952_68829959delinsTCTTTTTC , CM000678.2:g.68829952_68829959delinsTCTTTTTC	GRCh38
NC_000016.9:g.68863855_68863862delinsTCTTTTTC , CM000678.1:g.68863855_68863862delinsTCTTTTTC	GRCh37
NC_000016.8:g.67421356_67421363delinsTCTTTTTC	NCBI36
NG_008021.1:g.97661_97668delinsTCTTTTTC , LRG_301:g.97661_97668delinsTCTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+155_2439+162delinsTCTTTTTC MANE Select	ENSP00000261769.4:n.2439+155_2439+162delinsTCTTTTTC
ENST00000261769.9:c.2439+155_2439+162delinsTCTTTTTC	ENSP00000261769.4:n.2439+155_2439+162delinsTCTTTTTC
ENST00000422392.6:c.2256+155_2256+162delinsTCTTTTTC	ENSP00000414946.2:n.2256+155_2256+162delinsTCTTTTTC
ENST00000562118.1:n.657+155_657+162delinsTCTTTTTC
ENST00000562836.5:n.2510+155_2510+162delinsTCTTTTTC
ENST00000566510.5:c.1105+155_1105+162delinsTCTTTTTC	ENSP00000458139.1:n.1105+155_1105+162delinsTCTTTTTC
ENST00000566612.5:c.679+155_679+162delinsTCTTTTTC	ENSP00000454782.1:n.679+155_679+162delinsTCTTTTTC
ENST00000611625.4:c.2502+155_2502+162delinsTCTTTTTC	ENSP00000481063.1:n.2502+155_2502+162delinsTCTTTTTC
ENST00000612417.4:c.1853+3398_1853+3405delinsTCTTTTTC	ENSP00000478360.1:n.1853+3398_1853+3405delinsTCTTTTTC
ENST00000621016.4:c.1866-4251_1866-4244delinsTCTTTTTC	ENSP00000480664.1:n.1866-4251_1866-4244delinsTCTTTTTC
NM_004360.3:c.2439+155_2439+162delinsTCTTTTTC , LRG_301t1:c.2439+155_2439+162delinsTCTTTTTC	NP_004351.1:n.2439+155_2439+162delinsTCTTTTTC
XM_011523488.1:c.1704+155_1704+162delinsTCTTTTTC	XP_011521790.1:n.1704+155_1704+162delinsTCTTTTTC
XM_011523489.1:c.1704+155_1704+162delinsTCTTTTTC	XP_011521791.1:n.1704+155_1704+162delinsTCTTTTTC
NM_001317184.1:c.2256+155_2256+162delinsTCTTTTTC	NP_001304113.1:n.2256+155_2256+162delinsTCTTTTTC
NM_001317185.1:c.891+155_891+162delinsTCTTTTTC	NP_001304114.1:n.891+155_891+162delinsTCTTTTTC
NM_001317186.1:c.474+155_474+162delinsTCTTTTTC	NP_001304115.1:n.474+155_474+162delinsTCTTTTTC
NM_004360.4:c.2439+155_2439+162delinsTCTTTTTC	NP_004351.1:n.2439+155_2439+162delinsTCTTTTTC
NM_004360.5:c.2439+155_2439+162delinsTCTTTTTC MANE Select	NP_004351.1:n.2439+155_2439+162delinsTCTTTTTC
NM_001317184.2:c.2256+155_2256+162delinsTCTTTTTC	NP_001304113.1:n.2256+155_2256+162delinsTCTTTTTC
NM_001317185.2:c.891+155_891+162delinsTCTTTTTC	NP_001304114.1:n.891+155_891+162delinsTCTTTTTC
NM_001317186.2:c.474+155_474+162delinsTCTTTTTC	NP_001304115.1:n.474+155_474+162delinsTCTTTTTC