Canonical Allele Identifier: CA658795360

Gene: ATAD3A

Linked Data

• ClinVar Variation Id: 503862
• ClinVar RCV Id: RCV000598884
• dbSNP Id: rs1553123762
• MyVariant Identifiers: chr1:g.1447825_1447837del (hg19) ; chr1:g.1512445_1512457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512445_1512457del , CM000663.2:g.1512445_1512457del	GRCh38
NC_000001.10:g.1447825_1447837del , CM000663.1:g.1447825_1447837del	GRCh37
NC_000001.9:g.1437688_1437700del	NCBI36
NG_053035.1:g.5303_5315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339113.9:c.61_73del
ENST00000378756.8:c.177_189del MANE Select	ENSP00000368031.3:p.Lys60SerfsTer12
ENST00000672388.1:n.281_293del
ENST00000378755.9:c.177_189del	ENSP00000368030.5:p.Lys60SerfsTer12
ENST00000378756.7:c.177_189del	ENSP00000368031.3:p.Lys60SerfsTer12
NM_001170535.1:c.177_189del	NP_001164006.1:p.Lys60SerfsTer12
NM_018188.3:c.177_189del	NP_060658.3:p.Lys60SerfsTer12
NM_001170535.2:c.177_189del	NP_001164006.1:p.Lys60SerfsTer12
NM_018188.4:c.177_189del	NP_060658.3:p.Lys60SerfsTer12
XM_024448098.1:c.177_189del	XP_024303866.1:p.Lys60SerfsTer12
XR_001737282.1:n.303_315del
XR_002956997.1:n.303_315del
NM_001170535.3:c.177_189del MANE Select	NP_001164006.1:p.Lys60SerfsTer12
NM_018188.5:c.177_189del	NP_060658.3:p.Lys60SerfsTer12