Canonical Allele Identifier: CA521010235

Gene: ATAD3A

Linked Data

• dbSNP Id: rs1250641591
• gnomAD v2: 1-1447698-GGCC-G
• gnomAD v4: 1-1512318-GGCC-G
• MyVariant Identifiers: chr1:g.1447699_1447701del (hg19) ; chr1:g.1512319_1512321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512328_1512330del , CM000663.2:g.1512328_1512330del	GRCh38
NC_000001.10:g.1447708_1447710del , CM000663.1:g.1447708_1447710del	GRCh37
NC_000001.9:g.1437571_1437573del	NCBI36
NG_053035.1:g.5186_5188del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378756.8:c.60_62del MANE Select	ENSP00000368031.3:p.Pro21del
ENST00000672388.1:n.164_166del
ENST00000378755.9:c.60_62del	ENSP00000368030.5:p.Pro21del
ENST00000378756.7:c.60_62del	ENSP00000368031.3:p.Pro21del
NM_001170535.1:c.60_62del	NP_001164006.1:p.Pro21del
NM_018188.3:c.60_62del	NP_060658.3:p.Pro21del
NM_001170535.2:c.60_62del	NP_001164006.1:p.Pro21del
NM_018188.4:c.60_62del	NP_060658.3:p.Pro21del
XM_024448098.1:c.60_62del	XP_024303866.1:p.Pro21del
XR_001737282.1:n.186_188del
XR_002956997.1:n.186_188del
NM_001170535.3:c.60_62del MANE Select	NP_001164006.1:p.Pro21del
NM_018188.5:c.60_62del	NP_060658.3:p.Pro21del