Canonical Allele Identifier: CA622162577
Gene: ATP2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1306296033
gnomAD v2: 16-28914303-ACCT-A
MyVariant Identifiers: chr16:g.28914304_28914306del (hg19) chr16:g.28902983_28902985del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28902986_28902988del , CM000678.2:g.28902986_28902988del GRCh38
NC_000016.9:g.28914307_28914309del , CM000678.1:g.28914307_28914309del GRCh37
NC_000016.8:g.28821808_28821810del NCBI36
NG_023327.1:g.29499_29501del

Transcript Alleles

HGVS Amino-acid change
ENST00000395503.9:c.2745-44_2745-42del MANE Select ENSP00000378879.5:n.2745-44_2745-42del
ENST00000357084.7:c.2745-44_2745-42del ENSP00000349595.3:n.2745-44_2745-42del
ENST00000395503.8:c.2745-44_2745-42del ENSP00000378879.4:n.2745-44_2745-42del
ENST00000536376.5:c.2370-44_2370-42del ENSP00000443101.1:n.2370-44_2370-42del
NM_001286075.1:c.2370-44_2370-42del NP_001273004.1:n.2370-44_2370-42del
NM_004320.4:c.2745-44_2745-42del NP_004311.1:n.2745-44_2745-42del
NM_173201.3:c.2745-44_2745-42del NP_775293.1:n.2745-44_2745-42del
NM_004320.6:c.2745-44_2745-42del MANE Select NP_004311.1:n.2745-44_2745-42del
NM_173201.4:c.2745-44_2745-42del NP_775293.1:n.2745-44_2745-42del
NM_001286075.2:c.2370-44_2370-42del NP_001273004.1:n.2370-44_2370-42del
NM_173201.5:c.2745-44_2745-42del NP_775293.1:n.2745-44_2745-42del
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