Canonical Allele Identifier: CA890879132

Gene: ATP1B1

Linked Data

• dbSNP Id: rs1250615442
• gnomAD v4: 1-169130172-CAGGT-C
• MyVariant Identifiers: chr1:g.169099411_169099414del (hg19) ; chr1:g.169130173_169130176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169130175_169130178del , CM000663.2:g.169130175_169130178del	GRCh38
NC_000001.10:g.169099413_169099416del , CM000663.1:g.169099413_169099416del	GRCh37
NC_000001.9:g.167366037_167366040del	NCBI36
NG_023230.1:g.28467_28470del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494797.2:c.480+85_480+88del	ENSP00000477015.2:n.480+85_480+88del
ENST00000685155.1:c.480+85_480+88del	ENSP00000508678.1:n.480+85_480+88del
ENST00000685762.1:c.480+85_480+88del	ENSP00000508918.1:n.480+85_480+88del
ENST00000685792.1:c.480+85_480+88del	ENSP00000508616.1:n.480+85_480+88del
ENST00000686702.1:c.480+85_480+88del	ENSP00000509060.1:n.480+85_480+88del
ENST00000687013.1:n.4998+85_4998+88del
ENST00000687182.1:n.495+85_495+88del
ENST00000687745.1:c.480+85_480+88del	ENSP00000509323.1:n.480+85_480+88del
ENST00000688406.1:n.3494_3497del
ENST00000688755.1:c.648+85_648+88del	ENSP00000508725.1:n.648+85_648+88del
ENST00000689522.1:c.648+85_648+88del	ENSP00000509039.1:n.648+85_648+88del
ENST00000690184.1:c.648+85_648+88del	ENSP00000509517.1:n.648+85_648+88del
ENST00000690604.1:n.2523+85_2523+88del
ENST00000691106.1:c.288+85_288+88del	ENSP00000508710.1:n.288+85_288+88del
ENST00000691753.1:c.480+85_480+88del	ENSP00000509877.1:n.480+85_480+88del
ENST00000691802.1:c.288+85_288+88del	ENSP00000510565.1:n.288+85_288+88del
ENST00000692003.1:n.3409+85_3409+88del
ENST00000367815.9:c.648+85_648+88del MANE Select	ENSP00000356789.3:n.648+85_648+88del
ENST00000367815.8:c.648+85_648+88del	ENSP00000356789.3:n.648+85_648+88del
ENST00000367816.5:c.648+85_648+88del	ENSP00000356790.1:n.648+85_648+88del
NM_001677.3:c.648+85_648+88del	NP_001668.1:n.648+85_648+88del
NM_001677.4:c.648+85_648+88del MANE Select	NP_001668.1:n.648+85_648+88del