Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102916803_102916806delinsTTGG , CM000674.2:g.102916803_102916806delinsTTGG	GRCh38
NC_000012.11:g.103310581_103310584delinsTTGG , CM000674.1:g.103310581_103310584delinsTTGG	GRCh37
NC_000012.10:g.101834711_101834714delinsTTGG	NCBI36
NG_008690.1:g.5797_5800delinsCCAA
NG_008690.2:g.46605_46608delinsCCAA

HGVS	Amino-acid Change
ENST00000553106.6:c.60+265_60+268delinsCCAA MANE Select	ENSP00000448059.1:n.60+265_60+268delinsCCAA
ENST00000307000.7:c.-88+265_-88+268delinsCCAA	ENSP00000303500.2:n.-88+265_-88+268delinsCCAA
ENST00000546844.1:c.60+265_60+268delinsCCAA	ENSP00000446658.1:n.60+265_60+268delinsCCAA
ENST00000547319.1:n.372-208_372-205delinsCCAA
ENST00000549111.5:n.156+265_156+268delinsCCAA
ENST00000550978.6:c.44+265_44+268delinsCCAA
ENST00000551337.5:c.60+265_60+268delinsCCAA	ENSP00000447620.1:n.60+265_60+268delinsCCAA
ENST00000551988.5:n.149+265_149+268delinsCCAA
ENST00000553106.5:c.60+265_60+268delinsCCAA	ENSP00000448059.1:n.60+265_60+268delinsCCAA
ENST00000635500.1:n.29-3908_29-3905delinsCCAA
NM_000277.1:c.60+265_60+268delinsCCAA	NP_000268.1:n.60+265_60+268delinsCCAA
XM_011538422.1:c.60+265_60+268delinsCCAA	XP_011536724.1:n.60+265_60+268delinsCCAA
NM_000277.2:c.60+265_60+268delinsCCAA	NP_000268.1:n.60+265_60+268delinsCCAA
NM_001354304.1:c.60+265_60+268delinsCCAA	NP_001341233.1:n.60+265_60+268delinsCCAA
XM_017019370.2:c.60+265_60+268delinsCCAA	XP_016874859.1:n.60+265_60+268delinsCCAA
NM_000277.3:c.60+265_60+268delinsCCAA MANE Select	NP_000268.1:n.60+265_60+268delinsCCAA
NM_001354304.2:c.60+265_60+268delinsCCAA	NP_001341233.1:n.60+265_60+268delinsCCAA