Canonical Allele Identifier: CA2524600410

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583588_2583597del , CM000673.2:g.2583588_2583597del	GRCh38
NC_000011.9:g.2604818_2604827del , CM000673.1:g.2604818_2604827del	GRCh37
NC_000011.8:g.2561394_2561403del	NCBI36
NG_008935.1:g.143598_143607del , LRG_287:g.143598_143607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+43_771+52del	ENSP00000434560.2:n.771+43_771+52del
ENST00000646564.2:c.588+43_588+52del	ENSP00000495806.2:n.588+43_588+52del
ENST00000155840.12:c.1032+43_1032+52del MANE Select	ENSP00000155840.2:n.1032+43_1032+52del
ENST00000335475.6:c.651+43_651+52del	ENSP00000334497.5:n.651+43_651+52del
ENST00000646564.1:c.234+43_234+52del	ENSP00000495806.1:n.234+43_234+52del
ENST00000155840.9:c.1032+43_1032+52del	ENSP00000155840.2:n.1032+43_1032+52del
ENST00000335475.5:c.651+43_651+52del	ENSP00000334497.5:n.651+43_651+52del
NM_000218.2:c.1032+43_1032+52del , LRG_287t1:c.1032+43_1032+52del	NP_000209.2:n.1032+43_1032+52del
NM_181798.1:c.651+43_651+52del , LRG_287t2:c.651+43_651+52del	NP_861463.1:n.651+43_651+52del
NM_000218.3:c.1032+43_1032+52del MANE Select	NP_000209.2:n.1032+43_1032+52del