Canonical Allele Identifier: CA2612010777

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2777814-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777816_2777817del , CM000673.2:g.2777816_2777817del	GRCh38
NC_000011.9:g.2799046_2799047del , CM000673.1:g.2799046_2799047del	GRCh37
NC_000011.8:g.2755622_2755623del	NCBI36
NG_008935.1:g.337826_337827del , LRG_287:g.337826_337827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1376-160_1376-159del	ENSP00000434560.2:n.1376-160_1376-159del
ENST00000646564.2:c.1193-160_1193-159del	ENSP00000495806.2:n.1193-160_1193-159del
ENST00000155840.12:c.1733-160_1733-159del MANE Select	ENSP00000155840.2:n.1733-160_1733-159del
ENST00000335475.6:c.1352-160_1352-159del	ENSP00000334497.5:n.1352-160_1352-159del
ENST00000526095.2:c.136+3_136+4del	ENSP00000494939.1:n.136+3_136+4del
ENST00000646564.1:c.839-160_839-159del	ENSP00000495806.1:n.839-160_839-159del
ENST00000155840.9:c.1733-160_1733-159del	ENSP00000155840.2:n.1733-160_1733-159del
ENST00000335475.5:c.1352-160_1352-159del	ENSP00000334497.5:n.1352-160_1352-159del
ENST00000526095.1:n.239+3_239+4del
NM_000218.2:c.1733-160_1733-159del , LRG_287t1:c.1733-160_1733-159del	NP_000209.2:n.1733-160_1733-159del
NM_181798.1:c.1352-160_1352-159del , LRG_287t2:c.1352-160_1352-159del	NP_861463.1:n.1352-160_1352-159del
NM_000218.3:c.1733-160_1733-159del MANE Select	NP_000209.2:n.1733-160_1733-159del