Canonical Allele Identifier: CA152434832

Gene: C7orf50

Linked Data

• dbSNP Id: rs942519829
• gnomAD v3: 7-1044147-GCAGGTGTA-G
• gnomAD v4: 7-1044147-GCAGGTGTA-G
• MyVariant Identifiers: chr7:g.1083784_1083791del (hg19) ; chr7:g.1044148_1044155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1044149_1044156del , CM000669.2:g.1044149_1044156del	GRCh38
NC_000007.13:g.1083785_1083792del , CM000669.1:g.1083785_1083792del	GRCh37
NC_000007.12:g.1050311_1050318del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000397098.8:c.130-34012_130-34005del MANE Select	ENSP00000380286.3:n.130-34012_130-34005de...
ENST00000357429.10:c.130-34012_130-34005del	ENSP00000350011.5:n.130-34012_130-34005de...
ENST00000397098.7:c.130-34012_130-34005del	ENSP00000380286.3:n.130-34012_130-34005de...
ENST00000397100.6:c.130-34012_130-34005del	ENSP00000380288.2:n.130-34012_130-34005de...
ENST00000444428.5:c.33+11119_33+11126del	ENSP00000396542.1:n.33+11119_33+11126del
ENST00000488073.1:n.267-34012_267-34005del
ENST00000491163.1:c.130-34012_130-34005del	ENSP00000420130.1:n.130-34012_130-34005de...
NM_001134395.1:c.130-34012_130-34005del	NP_001127867.1:n.130-34012_130-34005del
NM_001134396.1:c.130-34012_130-34005del	NP_001127868.1:n.130-34012_130-34005del
NM_032350.5:c.130-34012_130-34005del	NP_115726.1:n.130-34012_130-34005del
XM_005249888.3:c.130-34012_130-34005del	XP_005249945.1:n.130-34012_130-34005del
XM_011515581.1:c.130-34012_130-34005del	XP_011513883.1:n.130-34012_130-34005del
XM_011515582.1:c.130-34012_130-34005del	XP_011513884.1:n.130-34012_130-34005del
XM_011515583.1:c.130-34012_130-34005del	XP_011513885.1:n.130-34012_130-34005del
XM_011515584.1:c.130-34012_130-34005del	XP_011513886.1:n.130-34012_130-34005del
NM_001318252.1:c.130-34012_130-34005del	NP_001305181.1:n.130-34012_130-34005del
NM_001350968.1:c.130-34012_130-34005del	NP_001337897.1:n.130-34012_130-34005del
XM_011515581.3:c.130-34012_130-34005del	XP_011513883.1:n.130-34012_130-34005del
XM_011515582.3:c.130-34012_130-34005del	XP_011513884.1:n.130-34012_130-34005del
XM_011515583.2:c.130-34012_130-34005del	XP_011513885.1:n.130-34012_130-34005del
XM_011515584.2:c.130-34012_130-34005del	XP_011513886.1:n.130-34012_130-34005del
XM_017012720.2:c.130-34012_130-34005del	XP_016868209.1:n.130-34012_130-34005del
XM_017012721.2:c.-144-22564_-144-22557del	XP_016868210.1:n.-144-22564_-144-22557del...
XM_024446977.1:c.130-34012_130-34005del	XP_024302745.1:n.130-34012_130-34005del
XM_024446978.1:c.-144-22564_-144-22557del	XP_024302746.1:n.-144-22564_-144-22557del...
NM_001318252.2:c.130-34012_130-34005del MANE Select	NP_001305181.1:n.130-34012_130-34005del