Canonical Allele Identifier: CA525569

Gene: ATAD3A

Linked Data

• dbSNP Id: rs745949447
• ExAC: 1:1447617 CCGGCGGCGGTAGCGG / C
• gnomAD v2: 1-1447617-CCGGCGGCGGTAGCGG-C
• gnomAD v4: 1-1512237-CCGGCGGCGGTAGCGG-C
• MyVariant Identifiers: chr1:g.1447618_1447632del (hg19) ; chr1:g.1512238_1512252del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512248_1512262del , CM000663.2:g.1512248_1512262del	GRCh38
NC_000001.10:g.1447628_1447642del , CM000663.1:g.1447628_1447642del	GRCh37
NC_000001.9:g.1437491_1437505del	NCBI36
NG_053035.1:g.5106_5120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378756.8:c.-21_-7del MANE Select	ENSP00000368031.3:n.-21_-7del
ENST00000672388.1:n.84_98del
ENST00000378755.9:c.-21_-7del	ENSP00000368030.5:n.-21_-7del
ENST00000378756.7:c.-21_-7del	ENSP00000368031.3:n.-21_-7del
NM_001170535.1:c.-21_-7del	NP_001164006.1:n.-21_-7del
NM_018188.3:c.-21_-7del	NP_060658.3:n.-21_-7del
NM_001170535.2:c.-21_-7del	NP_001164006.1:n.-21_-7del
NM_018188.4:c.-21_-7del	NP_060658.3:n.-21_-7del
XM_024448098.1:c.-21_-7del	XP_024303866.1:n.-21_-7del
XR_001737282.1:n.106_120del
XR_002956997.1:n.106_120del
NM_001170535.3:c.-21_-7del MANE Select	NP_001164006.1:n.-21_-7del
NM_018188.5:c.-21_-7del	NP_060658.3:n.-21_-7del