Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094930_112094931delinsTG , CM000673.2:g.112094930_112094931delinsTG	GRCh38
NC_000011.9:g.111965654_111965655delinsTG , CM000673.1:g.111965654_111965655delinsTG	GRCh37
NC_000011.8:g.111470864_111470865delinsTG	NCBI36
NG_012337.2:g.13084_13085delinsTG
NG_012337.3:g.13084_13085delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.179_180delinsTG	ENSP00000432946.2:n.179_180delinsTG
ENST00000534010.2:c.314+5919_314+5920delinsTG	ENSP00000433202.2:n.314+5919_314+5920delinsTG
ENST00000375549.8:c.440_441delinsTG MANE Select	ENSP00000364699.3:p.Val147=
ENST00000528021.6:c.314+5919_314+5920delinsTG	ENSP00000432465.1:n.314+5919_314+5920delinsTG
ENST00000375549.7:c.440_441delinsTG	ENSP00000364699.3:p.Val147=
ENST00000525291.5:c.323_324delinsTG	ENSP00000436669.1:p.Val108=
ENST00000525987.5:n.319+5919_319+5920delinsTG
ENST00000526592.5:c.138_139delinsTG	ENSP00000432005.1:n.138_139delinsTG
ENST00000528021.5:c.314+5919_314+5920delinsTG	ENSP00000432465.1:n.314+5919_314+5920delinsTG
ENST00000528048.5:c.37_38delinsTG	ENSP00000436217.1:n.37_38delinsTG
ENST00000528182.5:c.37_38delinsTG	ENSP00000435475.1:n.37_38delinsTG
ENST00000530923.5:c.484_485delinsTG
ENST00000531744.5:c.314+5919_314+5920delinsTG	ENSP00000456957.1:n.314+5919_314+5920delinsTG
ENST00000532699.1:c.314+5919_314+5920delinsTG	ENSP00000456434.1:n.314+5919_314+5920delinsTG
ENST00000534010.1:c.145+5919_145+5920delinsTG
NM_001276503.1:c.37_38delinsTG	NP_001263432.1:n.37_38delinsTG
NM_001276504.1:c.323_324delinsTG	NP_001263433.1:p.Val108=
NM_001276506.1:c.138_139delinsTG	NP_001263435.1:n.138_139delinsTG
NM_003002.3:c.440_441delinsTG	NP_002993.1:p.Val147=
NR_077060.1:n.578_579delinsTG
NM_003002.4:c.440_441delinsTG MANE Select	NP_002993.1:p.Val147=
NM_001276503.2:c.37_38delinsTG	NP_001263432.1:n.37_38delinsTG
NM_001276504.2:c.323_324delinsTG	NP_001263433.1:p.Val108=
NM_001276506.2:c.138_139delinsTG	NP_001263435.1:n.138_139delinsTG
NR_077060.2:n.529_530delinsTG