Canonical Allele Identifier: CA32425998

Gene: ATP1B1

Linked Data

• dbSNP Id: rs954821385
• gnomAD v3: 1-169130196-TAAG-T
• gnomAD v4: 1-169130196-TAAG-T
• MyVariant Identifiers: chr1:g.169099435_169099437del (hg19) ; chr1:g.169130197_169130199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169130199_169130201del , CM000663.2:g.169130199_169130201del	GRCh38
NC_000001.10:g.169099437_169099439del , CM000663.1:g.169099437_169099439del	GRCh37
NC_000001.9:g.167366061_167366063del	NCBI36
NG_023230.1:g.28491_28493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494797.2:c.480+109_480+111del	ENSP00000477015.2:n.480+109_480+111del
ENST00000685155.1:c.480+109_480+111del	ENSP00000508678.1:n.480+109_480+111del
ENST00000685762.1:c.480+109_480+111del	ENSP00000508918.1:n.480+109_480+111del
ENST00000685792.1:c.480+109_480+111del	ENSP00000508616.1:n.480+109_480+111del
ENST00000686702.1:c.480+109_480+111del	ENSP00000509060.1:n.480+109_480+111del
ENST00000687013.1:n.4998+109_4998+111del
ENST00000687182.1:n.495+109_495+111del
ENST00000687745.1:c.480+109_480+111del	ENSP00000509323.1:n.480+109_480+111del
ENST00000688406.1:n.3518_3520del
ENST00000688755.1:c.648+109_648+111del	ENSP00000508725.1:n.648+109_648+111del
ENST00000689522.1:c.648+109_648+111del	ENSP00000509039.1:n.648+109_648+111del
ENST00000690184.1:c.648+109_648+111del	ENSP00000509517.1:n.648+109_648+111del
ENST00000690604.1:n.2523+109_2523+111del
ENST00000691106.1:c.288+109_288+111del	ENSP00000508710.1:n.288+109_288+111del
ENST00000691753.1:c.480+109_480+111del	ENSP00000509877.1:n.480+109_480+111del
ENST00000691802.1:c.288+109_288+111del	ENSP00000510565.1:n.288+109_288+111del
ENST00000692003.1:n.3409+109_3409+111del
ENST00000367815.9:c.648+109_648+111del MANE Select	ENSP00000356789.3:n.648+109_648+111del
ENST00000367815.8:c.648+109_648+111del	ENSP00000356789.3:n.648+109_648+111del
ENST00000367816.5:c.648+109_648+111del	ENSP00000356790.1:n.648+109_648+111del
NM_001677.3:c.648+109_648+111del	NP_001668.1:n.648+109_648+111del
NM_001677.4:c.648+109_648+111del MANE Select	NP_001668.1:n.648+109_648+111del