Canonical Allele Identifier: CA10076657

Gene: MCM3AP

Linked Data

• dbSNP Id: rs769890072
• ExAC: 21:47685839 CCACT / C
• gnomAD v4: 21-46265925-CCACT-C
• MyVariant Identifiers: chr21:g.47685840_47685843del (hg19) ; chr21:g.46265926_46265929del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46265926_46265929del , CM000683.2:g.46265926_46265929del	GRCh38
NC_000021.8:g.47685840_47685843del , CM000683.1:g.47685840_47685843del	GRCh37
NC_000021.7:g.46510268_46510271del	NCBI36
NG_033881.1:g.24394_24397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.3027_3030del MANE Select	ENSP00000291688.1:p.Val1010AlafsTer10
ENST00000291688.5:c.3027_3030del	ENSP00000291688.1:p.Val1010AlafsTer10
ENST00000397708.1:c.3027_3030del	ENSP00000380820.1:p.Val1010AlafsTer10
ENST00000486937.5:n.1319_1322del
ENST00000496607.5:n.1024_1027del
NM_003906.4:c.3027_3030del	NP_003897.2:p.Val1010AlafsTer10
XM_005261203.3:c.3027_3030del	XP_005261260.1:p.Val1010AlafsTer10
XM_005261204.3:c.3027_3030del	XP_005261261.1:p.Val1010AlafsTer10
XM_005261205.2:c.3027_3030del	XP_005261262.1:p.Val1010AlafsTer10
XM_005261206.3:c.3027_3030del	XP_005261263.1:p.Val1010AlafsTer10
XM_006724064.2:c.3027_3030del	XP_006724127.1:p.Val1010AlafsTer10
XR_937577.1:n.3616_3619del
XM_005261203.4:c.3027_3030del	XP_005261260.1:p.Val1010AlafsTer10
XM_005261204.5:c.3027_3030del	XP_005261261.1:p.Val1010AlafsTer10
XM_005261205.4:c.3027_3030del	XP_005261262.1:p.Val1010AlafsTer10
NM_003906.5:c.3027_3030del MANE Select	NP_003897.2:p.Val1010AlafsTer10