Allele Registry

HGVS	Genome Assembly
NC_000019.10:g.18156127_18156132delinsTGGCCC , CM000681.2:g.18156127_18156132delinsTGGCCC	GRCh38
NC_000019.9:g.18266937_18266942delinsTGGCCC , CM000681.1:g.18266937_18266942delinsTGGCCC	GRCh37
NC_000019.8:g.18127937_18127942delinsTGGCCC	NCBI36
NG_033010.1:g.7950_7955delinsTGGCCC
NG_033010.2:g.7950_7955delinsTGGCCC

HGVS	Amino-acid Change
ENST00000222254.13:c.248_253delinsTGGCCC MANE Select	ENSP00000222254.6:p.Leu83=
ENST00000617130.5:c.248_253delinsTGGCCC	ENSP00000477864.2:p.Leu83=
ENST00000617642.2:c.248_253delinsTGGCCC	ENSP00000484714.2:p.Leu83=
ENST00000222254.12:c.248_253delinsTGGCCC	ENSP00000222254.6:p.Leu83=
ENST00000426902.5:c.248_253delinsTGGCCC	ENSP00000395636.1:p.Leu83=
ENST00000593731.1:c.248_253delinsTGGCCC	ENSP00000471914.1:p.Leu83=
ENST00000617130.4:c.248_253delinsTGGCCC	ENSP00000477864.1:p.Leu83=
ENST00000617642.1:c.248_253delinsTGGCCC	ENSP00000484714.1:p.Leu83=
NM_005027.3:c.248_253delinsTGGCCC	NP_005018.1:p.Leu83=
NR_073517.1:n.788_793delinsTGGCCC
NM_005027.4:c.248_253delinsTGGCCC MANE Select	NP_005018.2:p.Leu83=
NR_073517.2:n.803_808delinsTGGCCC
NR_162071.1:n.803_808delinsTGGCCC