Allele Registry

HGVS	Genome Assembly
NC_000011.10:g.2847842_2847860delinsACCCCCGGCAGCGGCGGCC , CM000673.2:g.2847842_2847860delinsACCCCCGGCAGCGGCGGCC	GRCh38
NC_000011.9:g.2869072_2869090delinsACCCCCGGCAGCGGCGGCC , CM000673.1:g.2869072_2869090delinsACCCCCGGCAGCGGCGGCC	GRCh37
NC_000011.8:g.2825648_2825666delinsACCCCCGGCAGCGGCGGCC	NCBI36
NG_008935.1:g.407852_407870delinsACCCCCGGCAGCGGCGGCC , LRG_287:g.407852_407870delinsACCCCCGGCAGCGGCGGCC

HGVS	Amino-acid Change
NM_000218.3:c.1870_1888delinsACCCCCGGCAGCGGCGGCC (KCNQ1) MANE Select	NP_000209.2:p.Thr624=
ENST00000155840.12:c.1870_1888delinsACCCCCGGCAGCGGCGGCC (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr624=
NM_000218.2:c.1870_1888delinsACCCCCGGCAGCGGCGGCC , LRG_287t1:c.1870_1888delinsACCCCCGGCAGCGGCGGCC (KCNQ1)	NP_000209.2:p.Thr624=
NM_181798.1:c.1489_1507delinsACCCCCGGCAGCGGCGGCC , LRG_287t2:c.1489_1507delinsACCCCCGGCAGCGGCGGCC (KCNQ1)	NP_861463.1:p.Thr497=
NR_130721.1:n.778-7418_778-7400delinsGGCCGCCGCTGCCGGGGGT (KCNQ1-AS1)
ENST00000155840.9:c.1870_1888delinsACCCCCGGCAGCGGCGGCC (KCNQ1)	ENSP00000155840.2:p.Thr624=
ENST00000335475.5:c.1489_1507delinsACCCCCGGCAGCGGCGGCC (KCNQ1)	ENSP00000334497.5:p.Thr497=
ENST00000335475.6:c.1489_1507delinsACCCCCGGCAGCGGCGGCC (KCNQ1)	ENSP00000334497.5:p.Thr497=
ENST00000496887.7:c.1513_1531delinsACCCCCGGCAGCGGCGGCC (KCNQ1)	ENSP00000434560.2:p.Thr505=
ENST00000526095.1:n.377_395delinsACCCCCGGCAGCGGCGGCC (KCNQ1)
ENST00000526095.2:c.274_292delinsACCCCCGGCAGCGGCGGCC (KCNQ1)	ENSP00000494939.1:p.Thr92=