Canonical Allele Identifier: CA7987375
Gene: ATP2A1 HGNC NCBI

Linked Data

dbSNP Id: rs764724729
ExAC: 16:28914260 CCCTCCCCTGAGGCCACTGCCCACAT / C
gnomAD v2: 16-28914260-CCCTCCCCTGAGGCCACTGCCCACAT-C
gnomAD v3: 16-28902939-CCCTCCCCTGAGGCCACTGCCCACAT-C
gnomAD v4: 16-28902939-CCCTCCCCTGAGGCCACTGCCCACAT-C
MyVariant Identifiers: chr16:g.28914261_28914285del (hg19) chr16:g.28902940_28902964del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28902945_28902969del , CM000678.2:g.28902945_28902969del GRCh38
NC_000016.9:g.28914266_28914290del , CM000678.1:g.28914266_28914290del GRCh37
NC_000016.8:g.28821767_28821791del NCBI36
NG_023327.1:g.29458_29482del

Transcript Alleles

HGVS Amino-acid change
ENST00000395503.9:c.2744+34_2744+58del MANE Select ENSP00000378879.5:n.2744+34_2744+58del
ENST00000357084.7:c.2744+34_2744+58del ENSP00000349595.3:n.2744+34_2744+58del
ENST00000395503.8:c.2744+34_2744+58del ENSP00000378879.4:n.2744+34_2744+58del
ENST00000536376.5:c.2369+34_2369+58del ENSP00000443101.1:n.2369+34_2369+58del
NM_001286075.1:c.2369+34_2369+58del NP_001273004.1:n.2369+34_2369+58del
NM_004320.4:c.2744+34_2744+58del NP_004311.1:n.2744+34_2744+58del
NM_173201.3:c.2744+34_2744+58del NP_775293.1:n.2744+34_2744+58del
NM_004320.6:c.2744+34_2744+58del MANE Select NP_004311.1:n.2744+34_2744+58del
NM_173201.4:c.2744+34_2744+58del NP_775293.1:n.2744+34_2744+58del
NM_001286075.2:c.2369+34_2369+58del NP_001273004.1:n.2369+34_2369+58del
NM_173201.5:c.2744+34_2744+58del NP_775293.1:n.2744+34_2744+58del
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