Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102840332_102840333insCTTTTCTCCTTAATTAAATATTTCAATAAATTTATT , CM000674.2:g.102840332_102840333insCTTTTCTCCTTAATTAAATATTTCAATAAATTTATT	GRCh38
NC_000012.11:g.103234110_103234111insCTTTTCTCCTTAATTAAATATTTCAATAAATTTATT , CM000674.1:g.103234110_103234111insCTTTTCTCCTTAATTAAATATTTCAATAAATTTATT	GRCh37
NC_000012.10:g.101758240_101758241insCTTTTCTCCTTAATTAAATATTTCAATAAATTTATT	NCBI36
NG_008690.1:g.82270_82271insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG
NG_008690.2:g.123078_123079insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG

HGVS	Amino-acid change
ENST00000553106.6:c.1315+67_1315+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG MANE Select	ENSP00000448059.1:n.1315+67_1315+68insAAT...
ENST00000307000.7:c.1300+67_1300+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG	ENSP00000303500.2:n.1300+67_1300+68insAAT...
ENST00000551114.2:n.977+67_977+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG
ENST00000553106.5:c.1315+67_1315+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG	ENSP00000448059.1:n.1315+67_1315+68insAAT...
ENST00000635477.1:c.419+67_419+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG
ENST00000635528.1:n.830+67_830+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG
NM_000277.1:c.1315+67_1315+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG	NP_000268.1:n.1315+67_1315+68insAATAAATTT...
XM_011538422.1:c.1258+67_1258+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG	XP_011536724.1:n.1258+67_1258+68insAATAAA...
NM_000277.2:c.1315+67_1315+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG	NP_000268.1:n.1315+67_1315+68insAATAAATTT...
NM_001354304.1:c.1315+67_1315+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG	NP_001341233.1:n.1315+67_1315+68insAATAAA...
NM_000277.3:c.1315+67_1315+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG MANE Select	NP_000268.1:n.1315+67_1315+68insAATAAATTT...
NM_001354304.2:c.1315+67_1315+68insAATAAATTTATTGAAATATTTAATTAAGGAGAAAAG	NP_001341233.1:n.1315+67_1315+68insAATAAA...