Allele Registry

HGVS	Genome Assembly
NC_000001.11:g.216246709_216246710insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT , CM000663.2:g.216246709_216246710insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT	GRCh38
NC_000001.10:g.216420051_216420052insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT , CM000663.1:g.216420051_216420052insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT	GRCh37
NC_000001.9:g.214486674_214486675insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT	NCBI36
NG_009497.1:g.181694_181695insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC
NG_009497.2:g.181746_181747insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC

HGVS	Amino-acid Change
ENST00000307340.8:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC MANE Select	ENSP00000305941.3:p.Gln898ArgfsTer?
ENST00000674083.1:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC	ENSP00000501296.1:p.Gln898ArgfsTer?
ENST00000307340.7:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC	ENSP00000305941.3:p.Gln898ArgfsTer?
ENST00000366942.3:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC	ENSP00000355909.3:p.Gln898ArgfsTer?
NM_007123.5:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC	NP_009054.5:p.Gln898ArgfsTer?
NM_206933.2:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC	NP_996816.2:p.Gln898ArgfsTer?
NM_206933.3:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC	NP_996816.2:p.Gln898ArgfsTer?
NM_007123.6:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC	NP_009054.6:p.Gln898ArgfsTer?
NM_206933.4:c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC MANE Select	NP_996816.3:p.Gln898ArgfsTer?