Allele Registry

HGVS	Genome Assembly
NC_000013.11:g.20189343_20189346delinsCGGATCT , CM000675.2:g.20189343_20189346delinsCGGATCT	GRCh38
NC_000013.10:g.20763482_20763485delinsCGGATCT , CM000675.1:g.20763482_20763485delinsCGGATCT	GRCh37
NC_000013.9:g.19661482_19661485delinsCGGATCT	NCBI36
NG_008358.1:g.8630_8633delinsAGATCCG

HGVS	Amino-acid Change
ENST00000382844.2:c.236_239delinsAGATCCG	ENSP00000372295.1:p.Leu79_Gln80delinsGlnIleArg
ENST00000382848.5:c.236_239delinsAGATCCG MANE Select	ENSP00000372299.4:p.Leu79_Gln80delinsGlnIleArg
ENST00000382844.1:c.236_239delinsAGATCCG	ENSP00000372295.1:p.Leu79_Gln80delinsGlnIleArg
ENST00000382848.4:c.236_239delinsAGATCCG	ENSP00000372299.4:p.Leu79_Gln80delinsGlnIleArg
NM_004004.5:c.236_239delinsAGATCCG	NP_003995.2:p.Leu79_Gln80delinsGlnIleArg
XM_011535049.1:c.236_239delinsAGATCCG	XP_011533351.1:p.Leu79_Gln80delinsGlnIleArg
XM_011535049.2:c.236_239delinsAGATCCG	XP_011533351.1:p.Leu79_Gln80delinsGlnIleArg
NM_004004.6:c.236_239delinsAGATCCG MANE Select	NP_003995.2:p.Leu79_Gln80delinsGlnIleArg