Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102894373_102894378delinsCAAAAG , CM000674.2:g.102894373_102894378delinsCAAAAG	GRCh38
NC_000012.11:g.103288151_103288156delinsCAAAAG , CM000674.1:g.103288151_103288156delinsCAAAAG	GRCh37
NC_000012.10:g.101812281_101812286delinsCAAAAG	NCBI36
NG_008690.1:g.28225_28230delinsCTTTTG
NG_008690.2:g.69033_69038delinsCTTTTG

HGVS	Amino-acid Change
ENST00000553106.6:c.352+357_352+362delinsCTTTTG MANE Select	ENSP00000448059.1:n.352+357_352+362delinsCTTTTG
ENST00000307000.7:c.337+357_337+362delinsCTTTTG	ENSP00000303500.2:n.337+357_337+362delinsCTTTTG
ENST00000548928.1:n.274+357_274+362delinsCTTTTG
ENST00000549111.5:n.448+357_448+362delinsCTTTTG
ENST00000550978.6:c.336+357_336+362delinsCTTTTG
ENST00000551337.5:c.352+357_352+362delinsCTTTTG	ENSP00000447620.1:n.352+357_352+362delinsCTTTTG
ENST00000551988.5:n.441+357_441+362delinsCTTTTG
ENST00000553106.5:c.352+357_352+362delinsCTTTTG	ENSP00000448059.1:n.352+357_352+362delinsCTTTTG
NM_000277.1:c.352+357_352+362delinsCTTTTG	NP_000268.1:n.352+357_352+362delinsCTTTTG
XM_011538422.1:c.352+357_352+362delinsCTTTTG	XP_011536724.1:n.352+357_352+362delinsCTTTTG
NM_000277.2:c.352+357_352+362delinsCTTTTG	NP_000268.1:n.352+357_352+362delinsCTTTTG
NM_001354304.1:c.352+357_352+362delinsCTTTTG	NP_001341233.1:n.352+357_352+362delinsCTTTTG
XM_017019370.2:c.352+357_352+362delinsCTTTTG	XP_016874859.1:n.352+357_352+362delinsCTTTTG
NM_000277.3:c.352+357_352+362delinsCTTTTG MANE Select	NP_000268.1:n.352+357_352+362delinsCTTTTG
NM_001354304.2:c.352+357_352+362delinsCTTTTG	NP_001341233.1:n.352+357_352+362delinsCTTTTG