Canonical Allele Identifier: CA2632541338
Gene: ATP2A1 HGNC NCBI

Linked Data

gnomAD v4: 16-28902982-ACCTCCTTCCTCCTCACTGTG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28902986_28903005del , CM000678.2:g.28902986_28903005del GRCh38
NC_000016.9:g.28914307_28914326del , CM000678.1:g.28914307_28914326del GRCh37
NC_000016.8:g.28821808_28821827del NCBI36
NG_023327.1:g.29499_29518del

Transcript Alleles

HGVS Amino-acid change
ENST00000395503.9:c.2745-44_2745-25del MANE Select ENSP00000378879.5:n.2745-44_2745-25del
ENST00000357084.7:c.2745-44_2745-25del ENSP00000349595.3:n.2745-44_2745-25del
ENST00000395503.8:c.2745-44_2745-25del ENSP00000378879.4:n.2745-44_2745-25del
ENST00000536376.5:c.2370-44_2370-25del ENSP00000443101.1:n.2370-44_2370-25del
NM_001286075.1:c.2370-44_2370-25del NP_001273004.1:n.2370-44_2370-25del
NM_004320.4:c.2745-44_2745-25del NP_004311.1:n.2745-44_2745-25del
NM_173201.3:c.2745-44_2745-25del NP_775293.1:n.2745-44_2745-25del
NM_004320.6:c.2745-44_2745-25del MANE Select NP_004311.1:n.2745-44_2745-25del
NM_173201.4:c.2745-44_2745-25del NP_775293.1:n.2745-44_2745-25del
NM_001286075.2:c.2370-44_2370-25del NP_001273004.1:n.2370-44_2370-25del
NM_173201.5:c.2745-44_2745-25del NP_775293.1:n.2745-44_2745-25del
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