Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35907625_35907631delinsTGGGGAG , CM000681.2:g.35907625_35907631delinsTGGGGAG	GRCh38
NC_000019.9:g.36398527_36398533delinsTGGGGAG , CM000681.1:g.36398527_36398533delinsTGGGGAG	GRCh37
NC_000019.8:g.41090367_41090373delinsTGGGGAG	NCBI36
NG_009304.1:g.5654_5660delinsCTCCCCA , LRG_607:g.5654_5660delinsCTCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262629.9:c.95-51_95-45delinsCTCCCCA MANE Select	ENSP00000262629.3:n.95-51_95-45delinsCTCCCCA
ENST00000262629.8:c.95-51_95-45delinsCTCCCCA	ENSP00000262629.3:n.95-51_95-45delinsCTCCCCA
ENST00000424586.7:c.62-51_62-45delinsCTCCCCA	ENSP00000402371.3:n.62-51_62-45delinsCTCCCCA
ENST00000544690.6:c.62-51_62-45delinsCTCCCCA	ENSP00000445332.1:n.62-51_62-45delinsCTCCCCA
ENST00000585626.1:n.162-51_162-45delinsCTCCCCA
ENST00000585901.6:c.95-51_95-45delinsCTCCCCA	ENSP00000468608.1:n.95-51_95-45delinsCTCCCCA
ENST00000586946.1:c.88-51_88-45delinsCTCCCCA	ENSP00000465656.1:n.88-51_88-45delinsCTCCCCA
ENST00000587837.5:c.88-51_88-45delinsCTCCCCA	ENSP00000465081.1:n.88-51_88-45delinsCTCCCCA
ENST00000588439.1:n.188_194delinsCTCCCCA
ENST00000589517.1:c.95-51_95-45delinsCTCCCCA	ENSP00000468447.1:n.95-51_95-45delinsCTCCCCA
NM_001173514.1:c.62-51_62-45delinsCTCCCCA	NP_001166985.1:n.62-51_62-45delinsCTCCCCA
NM_001173515.1:c.62-51_62-45delinsCTCCCCA	NP_001166986.1:n.62-51_62-45delinsCTCCCCA
NM_003332.3:c.95-51_95-45delinsCTCCCCA , LRG_607t1:c.95-51_95-45delinsCTCCCCA	NP_003323.1:n.95-51_95-45delinsCTCCCCA
NM_198125.2:c.95-51_95-45delinsCTCCCCA	NP_937758.1:n.95-51_95-45delinsCTCCCCA
NR_033390.1:n.136-51_136-45delinsCTCCCCA
NM_001173514.2:c.62-51_62-45delinsCTCCCCA	NP_001166985.1:n.62-51_62-45delinsCTCCCCA
NM_001173515.2:c.62-51_62-45delinsCTCCCCA	NP_001166986.1:n.62-51_62-45delinsCTCCCCA
NM_003332.4:c.95-51_95-45delinsCTCCCCA MANE Select	NP_003323.1:n.95-51_95-45delinsCTCCCCA
NM_198125.3:c.95-51_95-45delinsCTCCCCA	NP_937758.1:n.95-51_95-45delinsCTCCCCA
NR_033390.2:n.122-51_122-45delinsCTCCCCA