Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102894556_102894560delinsCCAAA , CM000674.2:g.102894556_102894560delinsCCAAA	GRCh38
NC_000012.11:g.103288334_103288338delinsCCAAA , CM000674.1:g.103288334_103288338delinsCCAAA	GRCh37
NC_000012.10:g.101812464_101812468delinsCCAAA	NCBI36
NG_008690.1:g.28043_28047delinsTTTGG
NG_008690.2:g.68851_68855delinsTTTGG

HGVS	Amino-acid Change
ENST00000553106.6:c.352+175_352+179delinsTTTGG MANE Select	ENSP00000448059.1:n.352+175_352+179delinsTTTGG
ENST00000307000.7:c.337+175_337+179delinsTTTGG	ENSP00000303500.2:n.337+175_337+179delinsTTTGG
ENST00000548928.1:n.274+175_274+179delinsTTTGG
ENST00000549111.5:n.448+175_448+179delinsTTTGG
ENST00000550978.6:c.336+175_336+179delinsTTTGG
ENST00000551337.5:c.352+175_352+179delinsTTTGG	ENSP00000447620.1:n.352+175_352+179delinsTTTGG
ENST00000551988.5:n.441+175_441+179delinsTTTGG
ENST00000553106.5:c.352+175_352+179delinsTTTGG	ENSP00000448059.1:n.352+175_352+179delinsTTTGG
NM_000277.1:c.352+175_352+179delinsTTTGG	NP_000268.1:n.352+175_352+179delinsTTTGG
XM_011538422.1:c.352+175_352+179delinsTTTGG	XP_011536724.1:n.352+175_352+179delinsTTTGG
NM_000277.2:c.352+175_352+179delinsTTTGG	NP_000268.1:n.352+175_352+179delinsTTTGG
NM_001354304.1:c.352+175_352+179delinsTTTGG	NP_001341233.1:n.352+175_352+179delinsTTTGG
XM_017019370.2:c.352+175_352+179delinsTTTGG	XP_016874859.1:n.352+175_352+179delinsTTTGG
NM_000277.3:c.352+175_352+179delinsTTTGG MANE Select	NP_000268.1:n.352+175_352+179delinsTTTGG
NM_001354304.2:c.352+175_352+179delinsTTTGG	NP_001341233.1:n.352+175_352+179delinsTTTGG