Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829937_68829946delinsCTTTTTCTTT , CM000678.2:g.68829937_68829946delinsCTTTTTCTTT	GRCh38
NC_000016.9:g.68863840_68863849delinsCTTTTTCTTT , CM000678.1:g.68863840_68863849delinsCTTTTTCTTT	GRCh37
NC_000016.8:g.67421341_67421350delinsCTTTTTCTTT	NCBI36
NG_008021.1:g.97646_97655delinsCTTTTTCTTT , LRG_301:g.97646_97655delinsCTTTTTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+140_2439+149delinsCTTTTTCTTT MANE Select	ENSP00000261769.4:n.2439+140_2439+149delinsCTTTTTCTTT
ENST00000261769.9:c.2439+140_2439+149delinsCTTTTTCTTT	ENSP00000261769.4:n.2439+140_2439+149delinsCTTTTTCTTT
ENST00000422392.6:c.2256+140_2256+149delinsCTTTTTCTTT	ENSP00000414946.2:n.2256+140_2256+149delinsCTTTTTCTTT
ENST00000562118.1:n.657+140_657+149delinsCTTTTTCTTT
ENST00000562836.5:n.2510+140_2510+149delinsCTTTTTCTTT
ENST00000566510.5:c.1105+140_1105+149delinsCTTTTTCTTT	ENSP00000458139.1:n.1105+140_1105+149delinsCTTTTTCTTT
ENST00000566612.5:c.679+140_679+149delinsCTTTTTCTTT	ENSP00000454782.1:n.679+140_679+149delinsCTTTTTCTTT
ENST00000611625.4:c.2502+140_2502+149delinsCTTTTTCTTT	ENSP00000481063.1:n.2502+140_2502+149delinsCTTTTTCTTT
ENST00000612417.4:c.1853+3383_1853+3392delinsCTTTTTCTTT	ENSP00000478360.1:n.1853+3383_1853+3392delinsCTTTTTCTTT
ENST00000621016.4:c.1866-4266_1866-4257delinsCTTTTTCTTT	ENSP00000480664.1:n.1866-4266_1866-4257delinsCTTTTTCTTT
NM_004360.3:c.2439+140_2439+149delinsCTTTTTCTTT , LRG_301t1:c.2439+140_2439+149delinsCTTTTTCTTT	NP_004351.1:n.2439+140_2439+149delinsCTTTTTCTTT
XM_011523488.1:c.1704+140_1704+149delinsCTTTTTCTTT	XP_011521790.1:n.1704+140_1704+149delinsCTTTTTCTTT
XM_011523489.1:c.1704+140_1704+149delinsCTTTTTCTTT	XP_011521791.1:n.1704+140_1704+149delinsCTTTTTCTTT
NM_001317184.1:c.2256+140_2256+149delinsCTTTTTCTTT	NP_001304113.1:n.2256+140_2256+149delinsCTTTTTCTTT
NM_001317185.1:c.891+140_891+149delinsCTTTTTCTTT	NP_001304114.1:n.891+140_891+149delinsCTTTTTCTTT
NM_001317186.1:c.474+140_474+149delinsCTTTTTCTTT	NP_001304115.1:n.474+140_474+149delinsCTTTTTCTTT
NM_004360.4:c.2439+140_2439+149delinsCTTTTTCTTT	NP_004351.1:n.2439+140_2439+149delinsCTTTTTCTTT
NM_004360.5:c.2439+140_2439+149delinsCTTTTTCTTT MANE Select	NP_004351.1:n.2439+140_2439+149delinsCTTTTTCTTT
NM_001317184.2:c.2256+140_2256+149delinsCTTTTTCTTT	NP_001304113.1:n.2256+140_2256+149delinsCTTTTTCTTT
NM_001317185.2:c.891+140_891+149delinsCTTTTTCTTT	NP_001304114.1:n.891+140_891+149delinsCTTTTTCTTT
NM_001317186.2:c.474+140_474+149delinsCTTTTTCTTT	NP_001304115.1:n.474+140_474+149delinsCTTTTTCTTT