Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156508768_156508769delinsCT , CM000667.2:g.156508768_156508769delinsCT	GRCh38
NC_000005.9:g.155935778_155935779delinsCT , CM000667.1:g.155935778_155935779delinsCT	GRCh37
NC_000005.8:g.155868356_155868357delinsCT	NCBI36
NG_008693.2:g.643425_643426delinsCT , LRG_205:g.643425_643426delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.294+66_294+67delinsCT MANE Select	ENSP00000338343.4:n.294+66_294+67delinsCT
ENST00000337851.8:c.294+66_294+67delinsCT	ENSP00000338343.4:n.294+66_294+67delinsCT
ENST00000435422.7:c.291+66_291+67delinsCT	ENSP00000403003.2:n.291+66_291+67delinsCT
ENST00000517913.5:c.294+66_294+67delinsCT	ENSP00000429378.1:n.294+66_294+67delinsCT
ENST00000524347.2:c.158+66_158+67delinsCT	ENSP00000430794.1:n.158+66_158+67delinsCT
NM_000337.5:c.294+66_294+67delinsCT , LRG_205t1:c.294+66_294+67delinsCT	NP_000328.2:n.294+66_294+67delinsCT
NM_001128209.1:c.291+66_291+67delinsCT	NP_001121681.1:n.291+66_291+67delinsCT
NM_172244.2:c.294+66_294+67delinsCT	NP_758447.1:n.294+66_294+67delinsCT
XM_005265966.3:c.294+66_294+67delinsCT	XP_005266023.1:n.294+66_294+67delinsCT
XM_005265967.1:c.294+66_294+67delinsCT	XP_005266024.1:n.294+66_294+67delinsCT
XM_006714911.2:c.294+66_294+67delinsCT	XP_006714974.1:n.294+66_294+67delinsCT
XM_011534621.1:c.291+66_291+67delinsCT	XP_011532923.1:n.291+66_291+67delinsCT
XM_005265966.5:c.294+66_294+67delinsCT	XP_005266023.1:n.294+66_294+67delinsCT
XM_005265967.2:c.294+66_294+67delinsCT	XP_005266024.1:n.294+66_294+67delinsCT
XM_011534621.2:c.291+66_291+67delinsCT	XP_011532923.1:n.291+66_291+67delinsCT
XM_017009723.2:c.294+66_294+67delinsCT	XP_016865212.1:n.294+66_294+67delinsCT
XM_017009724.1:c.294+66_294+67delinsCT	XP_016865213.1:n.294+66_294+67delinsCT
NM_001128209.2:c.291+66_291+67delinsCT	NP_001121681.1:n.291+66_291+67delinsCT
NM_172244.3:c.294+66_294+67delinsCT	NP_758447.1:n.294+66_294+67delinsCT
NM_000337.6:c.294+66_294+67delinsCT MANE Select	NP_000328.2:n.294+66_294+67delinsCT