Canonical Allele Identifier: CA1948309620

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768623_2768628delinsCAGATG , CM000673.2:g.2768623_2768628delinsCAGATG	GRCh38
NC_000011.9:g.2789853_2789858delinsCAGATG , CM000673.1:g.2789853_2789858delinsCAGATG	GRCh37
NC_000011.8:g.2746429_2746434delinsCAGATG	NCBI36
NG_008935.1:g.328633_328638delinsCAGATG , LRG_287:g.328633_328638delinsCAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-221_1158-216delinsCAGATG	ENSP00000434560.2:n.1158-221_1158-216delinsCAGATG
ENST00000646564.2:c.975-221_975-216delinsCAGATG	ENSP00000495806.2:n.975-221_975-216delinsCAGATG
ENST00000155840.12:c.1515-221_1515-216delinsCAGATG MANE Select	ENSP00000155840.2:n.1515-221_1515-216delinsCAGATG
ENST00000335475.6:c.1134-221_1134-216delinsCAGATG	ENSP00000334497.5:n.1134-221_1134-216delinsCAGATG
ENST00000646564.1:c.621-221_621-216delinsCAGATG	ENSP00000495806.1:n.621-221_621-216delinsCAGATG
ENST00000155840.9:c.1515-221_1515-216delinsCAGATG	ENSP00000155840.2:n.1515-221_1515-216delinsCAGATG
ENST00000335475.5:c.1134-221_1134-216delinsCAGATG	ENSP00000334497.5:n.1134-221_1134-216delinsCAGATG
NM_000218.2:c.1515-221_1515-216delinsCAGATG , LRG_287t1:c.1515-221_1515-216delinsCAGATG	NP_000209.2:n.1515-221_1515-216delinsCAGATG
NM_181798.1:c.1134-221_1134-216delinsCAGATG , LRG_287t2:c.1134-221_1134-216delinsCAGATG	NP_861463.1:n.1134-221_1134-216delinsCAGATG
NM_000218.3:c.1515-221_1515-216delinsCAGATG MANE Select	NP_000209.2:n.1515-221_1515-216delinsCAGATG