Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829946_68829959delinsTTTTTTTCTTTTTC , CM000678.2:g.68829946_68829959delinsTTTTTTTCTTTTTC	GRCh38
NC_000016.9:g.68863849_68863862delinsTTTTTTTCTTTTTC , CM000678.1:g.68863849_68863862delinsTTTTTTTCTTTTTC	GRCh37
NC_000016.8:g.67421350_67421363delinsTTTTTTTCTTTTTC	NCBI36
NG_008021.1:g.97655_97668delinsTTTTTTTCTTTTTC , LRG_301:g.97655_97668delinsTTTTTTTCTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+149_2439+162delinsTTTTTTTCTTTTTC MANE Select	ENSP00000261769.4:n.2439+149_2439+162delinsTTTTTTTCTTTTTC
ENST00000261769.9:c.2439+149_2439+162delinsTTTTTTTCTTTTTC	ENSP00000261769.4:n.2439+149_2439+162delinsTTTTTTTCTTTTTC
ENST00000422392.6:c.2256+149_2256+162delinsTTTTTTTCTTTTTC	ENSP00000414946.2:n.2256+149_2256+162delinsTTTTTTTCTTTTTC
ENST00000562118.1:n.657+149_657+162delinsTTTTTTTCTTTTTC
ENST00000562836.5:n.2510+149_2510+162delinsTTTTTTTCTTTTTC
ENST00000566510.5:c.1105+149_1105+162delinsTTTTTTTCTTTTTC	ENSP00000458139.1:n.1105+149_1105+162delinsTTTTTTTCTTTTTC
ENST00000566612.5:c.679+149_679+162delinsTTTTTTTCTTTTTC	ENSP00000454782.1:n.679+149_679+162delinsTTTTTTTCTTTTTC
ENST00000611625.4:c.2502+149_2502+162delinsTTTTTTTCTTTTTC	ENSP00000481063.1:n.2502+149_2502+162delinsTTTTTTTCTTTTTC
ENST00000612417.4:c.1853+3392_1853+3405delinsTTTTTTTCTTTTTC	ENSP00000478360.1:n.1853+3392_1853+3405delinsTTTTTTTCTTTTTC
ENST00000621016.4:c.1866-4257_1866-4244delinsTTTTTTTCTTTTTC	ENSP00000480664.1:n.1866-4257_1866-4244delinsTTTTTTTCTTTTTC
NM_004360.3:c.2439+149_2439+162delinsTTTTTTTCTTTTTC , LRG_301t1:c.2439+149_2439+162delinsTTTTTTTCTTTTTC	NP_004351.1:n.2439+149_2439+162delinsTTTTTTTCTTTTTC
XM_011523488.1:c.1704+149_1704+162delinsTTTTTTTCTTTTTC	XP_011521790.1:n.1704+149_1704+162delinsTTTTTTTCTTTTTC
XM_011523489.1:c.1704+149_1704+162delinsTTTTTTTCTTTTTC	XP_011521791.1:n.1704+149_1704+162delinsTTTTTTTCTTTTTC
NM_001317184.1:c.2256+149_2256+162delinsTTTTTTTCTTTTTC	NP_001304113.1:n.2256+149_2256+162delinsTTTTTTTCTTTTTC
NM_001317185.1:c.891+149_891+162delinsTTTTTTTCTTTTTC	NP_001304114.1:n.891+149_891+162delinsTTTTTTTCTTTTTC
NM_001317186.1:c.474+149_474+162delinsTTTTTTTCTTTTTC	NP_001304115.1:n.474+149_474+162delinsTTTTTTTCTTTTTC
NM_004360.4:c.2439+149_2439+162delinsTTTTTTTCTTTTTC	NP_004351.1:n.2439+149_2439+162delinsTTTTTTTCTTTTTC
NM_004360.5:c.2439+149_2439+162delinsTTTTTTTCTTTTTC MANE Select	NP_004351.1:n.2439+149_2439+162delinsTTTTTTTCTTTTTC
NM_001317184.2:c.2256+149_2256+162delinsTTTTTTTCTTTTTC	NP_001304113.1:n.2256+149_2256+162delinsTTTTTTTCTTTTTC
NM_001317185.2:c.891+149_891+162delinsTTTTTTTCTTTTTC	NP_001304114.1:n.891+149_891+162delinsTTTTTTTCTTTTTC
NM_001317186.2:c.474+149_474+162delinsTTTTTTTCTTTTTC	NP_001304115.1:n.474+149_474+162delinsTTTTTTTCTTTTTC