Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094933_112094934delinsGC , CM000673.2:g.112094933_112094934delinsGC	GRCh38
NC_000011.9:g.111965657_111965658delinsGC , CM000673.1:g.111965657_111965658delinsGC	GRCh37
NC_000011.8:g.111470867_111470868delinsGC	NCBI36
NG_012337.2:g.13087_13088delinsGC
NG_012337.3:g.13087_13088delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.182_183delinsGC	ENSP00000432946.2:n.182_183delinsGC
ENST00000534010.2:c.314+5922_314+5923delinsGC	ENSP00000433202.2:n.314+5922_314+5923delinsGC
ENST00000375549.8:c.443_444delinsGC MANE Select	ENSP00000364699.3:p.Gly148=
ENST00000528021.6:c.314+5922_314+5923delinsGC	ENSP00000432465.1:n.314+5922_314+5923delinsGC
ENST00000375549.7:c.443_444delinsGC	ENSP00000364699.3:p.Gly148=
ENST00000525291.5:c.326_327delinsGC	ENSP00000436669.1:p.Gly109=
ENST00000525987.5:n.319+5922_319+5923delinsGC
ENST00000526592.5:c.141_142delinsGC	ENSP00000432005.1:n.141_142delinsGC
ENST00000528021.5:c.314+5922_314+5923delinsGC	ENSP00000432465.1:n.314+5922_314+5923delinsGC
ENST00000528048.5:c.40_41delinsGC	ENSP00000436217.1:n.40_41delinsGC
ENST00000528182.5:c.40_41delinsGC	ENSP00000435475.1:n.40_41delinsGC
ENST00000530923.5:c.487_488delinsGC
ENST00000531744.5:c.314+5922_314+5923delinsGC	ENSP00000456957.1:n.314+5922_314+5923delinsGC
ENST00000532699.1:c.314+5922_314+5923delinsGC	ENSP00000456434.1:n.314+5922_314+5923delinsGC
ENST00000534010.1:c.145+5922_145+5923delinsGC
NM_001276503.1:c.40_41delinsGC	NP_001263432.1:n.40_41delinsGC
NM_001276504.1:c.326_327delinsGC	NP_001263433.1:p.Gly109=
NM_001276506.1:c.141_142delinsGC	NP_001263435.1:n.141_142delinsGC
NM_003002.3:c.443_444delinsGC	NP_002993.1:p.Gly148=
NR_077060.1:n.581_582delinsGC
NM_003002.4:c.443_444delinsGC MANE Select	NP_002993.1:p.Gly148=
NM_001276503.2:c.40_41delinsGC	NP_001263432.1:n.40_41delinsGC
NM_001276504.2:c.326_327delinsGC	NP_001263433.1:p.Gly109=
NM_001276506.2:c.141_142delinsGC	NP_001263435.1:n.141_142delinsGC
NR_077060.2:n.532_533delinsGC