Canonical Allele Identifier: CA889287713

Gene: ATAD3A

Linked Data

• dbSNP Id: rs1449994905
• MyVariant Identifiers: chr1:g.1447819_1447821del (hg19) ; chr1:g.1512439_1512441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512443_1512445del , CM000663.2:g.1512443_1512445del	GRCh38
NC_000001.10:g.1447823_1447825del , CM000663.1:g.1447823_1447825del	GRCh37
NC_000001.9:g.1437686_1437688del	NCBI36
NG_053035.1:g.5301_5303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339113.9:c.59_61del
ENST00000378756.8:c.175_177del MANE Select	ENSP00000368031.3:p.Ala59del
ENST00000672388.1:n.279_281del
ENST00000378755.9:c.175_177del	ENSP00000368030.5:p.Ala59del
ENST00000378756.7:c.175_177del	ENSP00000368031.3:p.Ala59del
NM_001170535.1:c.175_177del	NP_001164006.1:p.Ala59del
NM_018188.3:c.175_177del	NP_060658.3:p.Ala59del
NM_001170535.2:c.175_177del	NP_001164006.1:p.Ala59del
NM_018188.4:c.175_177del	NP_060658.3:p.Ala59del
XM_024448098.1:c.175_177del	XP_024303866.1:p.Ala59del
XR_001737282.1:n.301_303del
XR_002956997.1:n.301_303del
NM_001170535.3:c.175_177del MANE Select	NP_001164006.1:p.Ala59del
NM_018188.5:c.175_177del	NP_060658.3:p.Ala59del