Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728552_214728553insTTTATTCAAA , CM000664.2:g.214728552_214728553insTTTATTCAAA	GRCh38
NC_000002.11:g.215593276_215593277insTTTATTCAAA , CM000664.1:g.215593276_215593277insTTTATTCAAA	GRCh37
NC_000002.10:g.215301521_215301522insTTTATTCAAA	NCBI36
NG_012047.2:g.86152_86153insTTTGAATAAA
NG_012047.3:g.86159_86160insTTTGAATAAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.123_124insTTTGAATAAA MANE Select	NP_000456.2:n.123_124insTTTGAATAAA
ENST00000260947.9:c.123_124insTTTGAATAAA MANE Select	ENSP00000260947.4:n.123_124insTTTGAATAAA
NM_000465.3:c.123_124insTTTGAATAAA	NP_000456.2:n.123_124insTTTGAATAAA
NM_001282543.1:c.123_124insTTTGAATAAA	NP_001269472.1:n.123_124insTTTGAATAAA
NM_001282543.2:c.123_124insTTTGAATAAA	NP_001269472.1:n.123_124insTTTGAATAAA
NM_001282545.1:c.123_124insTTTGAATAAA	NP_001269474.1:n.123_124insTTTGAATAAA
NM_001282545.2:c.123_124insTTTGAATAAA	NP_001269474.1:n.123_124insTTTGAATAAA
NM_001282548.1:c.123_124insTTTGAATAAA	NP_001269477.1:n.123_124insTTTGAATAAA
NM_001282548.2:c.123_124insTTTGAATAAA	NP_001269477.1:n.123_124insTTTGAATAAA
NM_001282549.1:c.123_124insTTTGAATAAA	NP_001269478.1:n.123_124insTTTGAATAAA
NM_001282549.2:c.123_124insTTTGAATAAA	NP_001269478.1:n.123_124insTTTGAATAAA
NR_104212.1:n.2450_2451insTTTGAATAAA
NR_104212.2:n.2422_2423insTTTGAATAAA
NR_104215.1:n.2393_2394insTTTGAATAAA
NR_104215.2:n.2365_2366insTTTGAATAAA
NR_104216.1:n.1649_1650insTTTGAATAAA
NR_104216.2:n.1621_1622insTTTGAATAAA
ENST00000260947.8:c.123_124insTTTGAATAAA	ENSP00000260947.4:n.123_124insTTTGAATAAA
ENST00000432456.5:c.600_601insTTTGAATAAA
ENST00000471590.5:n.792_793insTTTGAATAAA
ENST00000613374.4:c.123_124insTTTGAATAAA	ENSP00000484464.1:n.123_124insTTTGAATAAA
ENST00000613706.4:c.123_124insTTTGAATAAA	ENSP00000484976.1:n.123_124insTTTGAATAAA
ENST00000617164.4:c.123_124insTTTGAATAAA	ENSP00000480470.1:n.123_124insTTTGAATAAA
ENST00000619009.4:c.123_124insTTTGAATAAA	ENSP00000482293.1:n.123_124insTTTGAATAAA
XM_011511567.1:c.123_124insTTTGAATAAA	XP_011509869.1:n.123_124insTTTGAATAAA
XM_017004613.1:c.123_124insTTTGAATAAA	XP_016860102.1:n.123_124insTTTGAATAAA
XR_002959322.1:n.2823_2824insTTTGAATAAA

HGVS	Amino-acid Change
NM_000465.4:c.123_124insTTTGAATAAA MANE Select	NP_000456.2:n.123_124insTTTGAATAAA
ENST00000260947.9:c.123_124insTTTGAATAAA MANE Select	ENSP00000260947.4:n.123_124insTTTGAATAAA
NM_000465.3:c.123_124insTTTGAATAAA	NP_000456.2:n.123_124insTTTGAATAAA
NM_001282543.1:c.123_124insTTTGAATAAA	NP_001269472.1:n.123_124insTTTGAATAAA
NM_001282543.2:c.123_124insTTTGAATAAA	NP_001269472.1:n.123_124insTTTGAATAAA
NM_001282545.1:c.123_124insTTTGAATAAA	NP_001269474.1:n.123_124insTTTGAATAAA
NM_001282545.2:c.123_124insTTTGAATAAA	NP_001269474.1:n.123_124insTTTGAATAAA
NM_001282548.1:c.123_124insTTTGAATAAA	NP_001269477.1:n.123_124insTTTGAATAAA
NM_001282548.2:c.123_124insTTTGAATAAA	NP_001269477.1:n.123_124insTTTGAATAAA
NM_001282549.1:c.123_124insTTTGAATAAA	NP_001269478.1:n.123_124insTTTGAATAAA
NM_001282549.2:c.123_124insTTTGAATAAA	NP_001269478.1:n.123_124insTTTGAATAAA
NR_104212.1:n.2450_2451insTTTGAATAAA
NR_104212.2:n.2422_2423insTTTGAATAAA
NR_104215.1:n.2393_2394insTTTGAATAAA
NR_104215.2:n.2365_2366insTTTGAATAAA
NR_104216.1:n.1649_1650insTTTGAATAAA
NR_104216.2:n.1621_1622insTTTGAATAAA
ENST00000260947.8:c.123_124insTTTGAATAAA	ENSP00000260947.4:n.123_124insTTTGAATAAA
ENST00000432456.5:c.600_601insTTTGAATAAA
ENST00000471590.5:n.792_793insTTTGAATAAA
ENST00000613374.4:c.123_124insTTTGAATAAA	ENSP00000484464.1:n.123_124insTTTGAATAAA
ENST00000613706.4:c.123_124insTTTGAATAAA	ENSP00000484976.1:n.123_124insTTTGAATAAA
ENST00000617164.4:c.123_124insTTTGAATAAA	ENSP00000480470.1:n.123_124insTTTGAATAAA
ENST00000619009.4:c.123_124insTTTGAATAAA	ENSP00000482293.1:n.123_124insTTTGAATAAA
XM_011511567.1:c.123_124insTTTGAATAAA	XP_011509869.1:n.123_124insTTTGAATAAA
XM_017004613.1:c.123_124insTTTGAATAAA	XP_016860102.1:n.123_124insTTTGAATAAA
XR_002959322.1:n.2823_2824insTTTGAATAAA