Canonical Allele Identifier: CA572354953

Gene: C7orf50

Linked Data

• dbSNP Id: rs1554301816
• gnomAD v2: 7-1083784-C-CA
• gnomAD v3: 7-1044148-C-CA
• gnomAD v4: 7-1044148-C-CA
• MyVariant Identifiers: chr7:g.1083784_1083785insA (hg19) ; chr7:g.1044148_1044149insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1044149dup , CM000669.2:g.1044149dup	GRCh38
NC_000007.13:g.1083785dup , CM000669.1:g.1083785dup	GRCh37
NC_000007.12:g.1050311dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397098.8:c.130-34006dup MANE Select	ENSP00000380286.3:n.130-34006dup
ENST00000357429.10:c.130-34006dup	ENSP00000350011.5:n.130-34006dup
ENST00000397098.7:c.130-34006dup	ENSP00000380286.3:n.130-34006dup
ENST00000397100.6:c.130-34006dup	ENSP00000380288.2:n.130-34006dup
ENST00000444428.5:c.33+11125dup	ENSP00000396542.1:n.33+11125dup
ENST00000488073.1:n.267-34006dup
ENST00000491163.1:c.130-34006dup	ENSP00000420130.1:n.130-34006dup
NM_001134395.1:c.130-34006dup	NP_001127867.1:n.130-34006dup
NM_001134396.1:c.130-34006dup	NP_001127868.1:n.130-34006dup
NM_032350.5:c.130-34006dup	NP_115726.1:n.130-34006dup
XM_005249888.3:c.130-34006dup	XP_005249945.1:n.130-34006dup
XM_011515581.1:c.130-34006dup	XP_011513883.1:n.130-34006dup
XM_011515582.1:c.130-34006dup	XP_011513884.1:n.130-34006dup
XM_011515583.1:c.130-34006dup	XP_011513885.1:n.130-34006dup
XM_011515584.1:c.130-34006dup	XP_011513886.1:n.130-34006dup
NM_001318252.1:c.130-34006dup	NP_001305181.1:n.130-34006dup
NM_001350968.1:c.130-34006dup	NP_001337897.1:n.130-34006dup
XM_011515581.3:c.130-34006dup	XP_011513883.1:n.130-34006dup
XM_011515582.3:c.130-34006dup	XP_011513884.1:n.130-34006dup
XM_011515583.2:c.130-34006dup	XP_011513885.1:n.130-34006dup
XM_011515584.2:c.130-34006dup	XP_011513886.1:n.130-34006dup
XM_017012720.2:c.130-34006dup	XP_016868209.1:n.130-34006dup
XM_017012721.2:c.-144-22558dup	XP_016868210.1:n.-144-22558dup
XM_024446977.1:c.130-34006dup	XP_024302745.1:n.130-34006dup
XM_024446978.1:c.-144-22558dup	XP_024302746.1:n.-144-22558dup
NM_001318252.2:c.130-34006dup MANE Select	NP_001305181.1:n.130-34006dup