Canonical Allele Identifier: CA2632541316

Gene: ATP2A1

Linked Data

• gnomAD v4: 16-28902888-C-CCCTGTCCGTGCTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28902888_28902889insCCTGTCCGTGCTGGT , CM000678.2:g.28902888_28902889insCCTGTCCGTGCTGGT	GRCh38
NC_000016.9:g.28914209_28914210insCCTGTCCGTGCTGGT , CM000678.1:g.28914209_28914210insCCTGTCCGTGCTGGT	GRCh37
NC_000016.8:g.28821710_28821711insCCTGTCCGTGCTGGT	NCBI36
NG_023327.1:g.29401_29402insCCTGTCCGTGCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2721_2722insCCTGTCCGTGCTGGT MANE Select	ENSP00000378879.5:p.Ile907_Glu908insProValArgAlaGly
ENST00000357084.7:c.2721_2722insCCTGTCCGTGCTGGT	ENSP00000349595.3:p.Ile907_Glu908insProValArgAlaGly
ENST00000395503.8:c.2721_2722insCCTGTCCGTGCTGGT	ENSP00000378879.4:p.Ile907_Glu908insProValArgAlaGly
ENST00000536376.5:c.2346_2347insCCTGTCCGTGCTGGT	ENSP00000443101.1:p.Ile782_Glu783insProValArgAlaGly
NM_001286075.1:c.2346_2347insCCTGTCCGTGCTGGT	NP_001273004.1:p.Ile782_Glu783insProValArgAlaGly
NM_004320.4:c.2721_2722insCCTGTCCGTGCTGGT	NP_004311.1:p.Ile907_Glu908insProValArgAlaGly
NM_173201.3:c.2721_2722insCCTGTCCGTGCTGGT	NP_775293.1:p.Ile907_Glu908insProValArgAlaGly
NM_004320.6:c.2721_2722insCCTGTCCGTGCTGGT MANE Select	NP_004311.1:p.Ile907_Glu908insProValArgAlaGly
NM_173201.4:c.2721_2722insCCTGTCCGTGCTGGT	NP_775293.1:p.Ile907_Glu908insProValArgAlaGly
NM_001286075.2:c.2346_2347insCCTGTCCGTGCTGGT	NP_001273004.1:p.Ile782_Glu783insProValArgAlaGly
NM_173201.5:c.2721_2722insCCTGTCCGTGCTGGT	NP_775293.1:p.Ile907_Glu908insProValArgAlaGly