Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120487_11120494delinsTGCTGCTG , CM000681.2:g.11120487_11120494delinsTGCTGCTG	GRCh38
NC_000019.9:g.11231163_11231170delinsTGCTGCTG , CM000681.1:g.11231163_11231170delinsTGCTGCTG	GRCh37
NC_000019.8:g.11092163_11092170delinsTGCTGCTG	NCBI36
NG_009060.1:g.36107_36114delinsTGCTGCTG , LRG_274:g.36107_36114delinsTGCTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2363_2370delinsTGCTGCTG	ENSP00000252444.6:p.Met788=
ENST00000559340.2:c.174_181delinsTGCTGCTG	ENSP00000453696.2:n.174_181delinsTGCTGCTG
ENST00000560467.2:c.1985_1992delinsTGCTGCTG	ENSP00000453513.2:p.Met662=
ENST00000558518.6:c.2105_2112delinsTGCTGCTG MANE Select	ENSP00000454071.1:p.Met702=
ENST00000252444.9:c.2359_2366delinsTGCTGCTG
ENST00000455727.6:c.1601_1608delinsTGCTGCTG	ENSP00000397829.2:p.Met534=
ENST00000535915.5:c.1982_1989delinsTGCTGCTG	ENSP00000440520.1:p.Met661=
ENST00000545707.5:c.1606+254_1606+261delinsTGCTGCTG	ENSP00000437639.1:n.1606+254_1606+261delinsTGCTGCTG
ENST00000557933.5:c.2105_2112delinsTGCTGCTG	ENSP00000453557.1:p.Met702=
ENST00000558013.5:c.2105_2112delinsTGCTGCTG	ENSP00000453346.1:p.Met702=
ENST00000558518.5:c.2105_2112delinsTGCTGCTG	ENSP00000454071.1:p.Met702=
NM_000527.4:c.2105_2112delinsTGCTGCTG , LRG_274t1:c.2105_2112delinsTGCTGCTG	NP_000518.1:p.Met702=
NM_001195798.1:c.2105_2112delinsTGCTGCTG	NP_001182727.1:p.Met702=
NM_001195799.1:c.1982_1989delinsTGCTGCTG	NP_001182728.1:p.Met661=
NM_001195800.1:c.1601_1608delinsTGCTGCTG	NP_001182729.1:p.Met534=
NM_001195803.1:c.1606+254_1606+261delinsTGCTGCTG	NP_001182732.1:n.1606+254_1606+261delinsTGCTGCTG
XM_011528010.1:c.2105_2112delinsTGCTGCTG	XP_011526312.1:p.Met702=
XM_011528011.1:c.1724_1731delinsTGCTGCTG	XP_011526313.1:p.Met575=
XR_244074.2:n.2115_2122delinsTGCTGCTG
XM_011528010.2:c.2105_2112delinsTGCTGCTG	XP_011526312.1:p.Met702=
XR_001753685.2:n.2222_2229delinsTGCTGCTG
XR_001753686.2:n.2082_2089delinsTGCTGCTG
NM_000527.5:c.2105_2112delinsTGCTGCTG MANE Select	NP_000518.1:p.Met702=
NM_001195798.2:c.2105_2112delinsTGCTGCTG	NP_001182727.1:p.Met702=
NM_001195799.2:c.1982_1989delinsTGCTGCTG	NP_001182728.1:p.Met661=
NM_001195800.2:c.1601_1608delinsTGCTGCTG	NP_001182729.1:p.Met534=
NM_001195803.2:c.1606+254_1606+261delinsTGCTGCTG	NP_001182732.1:n.1606+254_1606+261delinsTGCTGCTG