Canonical Allele Identifier: CA2215885713

Gene: ATP2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28901027_28901028delinsTG , CM000678.2:g.28901027_28901028delinsTG	GRCh38
NC_000016.9:g.28912348_28912349delinsTG , CM000678.1:g.28912348_28912349delinsTG	GRCh37
NC_000016.8:g.28819849_28819850delinsTG	NCBI36
NG_023327.1:g.27540_27541delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2100+111_2100+112delinsTG MANE Select	ENSP00000378879.5:n.2100+111_2100+112delinsTG
ENST00000357084.7:c.2100+111_2100+112delinsTG	ENSP00000349595.3:n.2100+111_2100+112delinsTG
ENST00000395503.8:c.2100+111_2100+112delinsTG	ENSP00000378879.4:n.2100+111_2100+112delinsTG
ENST00000536376.5:c.1725+111_1725+112delinsTG	ENSP00000443101.1:n.1725+111_1725+112delinsTG
NM_001286075.1:c.1725+111_1725+112delinsTG	NP_001273004.1:n.1725+111_1725+112delinsTG
NM_004320.4:c.2100+111_2100+112delinsTG	NP_004311.1:n.2100+111_2100+112delinsTG
NM_173201.3:c.2100+111_2100+112delinsTG	NP_775293.1:n.2100+111_2100+112delinsTG
NM_004320.6:c.2100+111_2100+112delinsTG MANE Select	NP_004311.1:n.2100+111_2100+112delinsTG
NM_173201.4:c.2100+111_2100+112delinsTG	NP_775293.1:n.2100+111_2100+112delinsTG
NM_001286075.2:c.1725+111_1725+112delinsTG	NP_001273004.1:n.1725+111_1725+112delinsTG
NM_173201.5:c.2100+111_2100+112delinsTG	NP_775293.1:n.2100+111_2100+112delinsTG