Canonical Allele Identifier: CA2632540148

Gene: ATP2A1

Linked Data

• gnomAD v4: 16-28900929-AGGCAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900930_28900935del , CM000678.2:g.28900930_28900935del	GRCh38
NC_000016.9:g.28912251_28912256del , CM000678.1:g.28912251_28912256del	GRCh37
NC_000016.8:g.28819752_28819757del	NCBI36
NG_023327.1:g.27443_27448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2100+14_2100+19del MANE Select	ENSP00000378879.5:n.2100+14_2100+19del
ENST00000357084.7:c.2100+14_2100+19del	ENSP00000349595.3:n.2100+14_2100+19del
ENST00000395503.8:c.2100+14_2100+19del	ENSP00000378879.4:n.2100+14_2100+19del
ENST00000536376.5:c.1725+14_1725+19del	ENSP00000443101.1:n.1725+14_1725+19del
NM_001286075.1:c.1725+14_1725+19del	NP_001273004.1:n.1725+14_1725+19del
NM_004320.4:c.2100+14_2100+19del	NP_004311.1:n.2100+14_2100+19del
NM_173201.3:c.2100+14_2100+19del	NP_775293.1:n.2100+14_2100+19del
NM_004320.6:c.2100+14_2100+19del MANE Select	NP_004311.1:n.2100+14_2100+19del
NM_173201.4:c.2100+14_2100+19del	NP_775293.1:n.2100+14_2100+19del
NM_001286075.2:c.1725+14_1725+19del	NP_001273004.1:n.1725+14_1725+19del
NM_173201.5:c.2100+14_2100+19del	NP_775293.1:n.2100+14_2100+19del