Canonical Allele Identifier: CA8353100

Gene: MPDU1

Linked Data

• ClinVar Variation Id: 325526
• ClinVar RCV Id: RCV000403254
• dbSNP Id: rs543253078
• ExAC: 17:7491391 G / GA
• gnomAD v2: 17-7491391-G-GA
• gnomAD v3: 17-7588073-G-GA
• gnomAD v4: 17-7588073-G-GA
• MyVariant Identifiers: chr17:g.7491392dupA (hg19) ; chr17:g.7491391_7491392insA (hg19) ; chr17:g.7588074dupA (hg38) ; chr17:g.7588073_7588074insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7588074dup , CM000679.2:g.7588074dup	GRCh38
NC_000017.10:g.7491392dup , CM000679.1:g.7491392dup	GRCh37
NC_000017.9:g.7432116dup	NCBI36
NG_009204.1:g.9428dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000250124.11:c.*523dup MANE Select	ENSP00000250124.6:n.*523dup
ENST00000250124.10:c.*523dup	ENSP00000250124.6:n.*523dup
ENST00000423172.6:c.532+803dup	ENSP00000414071.2:n.532+803dup
ENST00000572836.5:n.1421dup
ENST00000577088.5:n.1542dup
ENST00000584378.5:c.413+803dup	ENSP00000462839.1:n.413+803dup
ENST00000585217.5:c.346-21dup	ENSP00000463037.1:n.346-21dup
ENST00000620608.4:c.*630dup	ENSP00000483915.1:n.*630dup
ENST00000621041.4:c.*365dup	ENSP00000479257.1:n.*365dup
NM_004870.3:c.*523dup	NP_004861.2:n.*523dup
NR_024603.1:n.1478dup
XM_006721597.1:c.*365dup	XP_006721660.1:n.*365dup
XM_006721598.1:c.*630dup	XP_006721661.1:n.*630dup
XM_006721599.1:c.*630dup	XP_006721662.1:n.*630dup
XM_011524081.1:c.*523dup	XP_011522383.1:n.*523dup
NM_001330073.1:c.*630dup	NP_001317002.1:n.*630dup
XM_006721597.2:c.*365dup	XP_006721660.1:n.*365dup
XM_006721598.3:c.*630dup	XP_006721661.1:n.*630dup
XM_011524081.2:c.*523dup	XP_011522383.1:n.*523dup
XM_024451040.1:c.*523dup	XP_024306808.1:n.*523dup
NM_004870.4:c.*523dup MANE Select	NP_004861.2:n.*523dup