Canonical Allele Identifier: CA562885636

Gene: CCDC192

Linked Data

• dbSNP Id: rs1371781657
• gnomAD v2: 5-127168929-CCTCTA-C
• gnomAD v3: 5-127833237-CCTCTA-C
• gnomAD v4: 5-127833237-CCTCTA-C
• MyVariant Identifiers: chr5:g.127168930_127168934del (hg19) ; chr5:g.127833238_127833242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127833243_127833247del , CM000667.2:g.127833243_127833247del	GRCh38
NC_000005.9:g.127168935_127168939del , CM000667.1:g.127168935_127168939del	GRCh37
NC_000005.8:g.127196834_127196838del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706942.1:c.468+35081_468+35085del	ENSP00000516662.1:n.468+35081_468+35085del
ENST00000514853.5:c.411+35081_411+35085del MANE Select	ENSP00000490579.2:n.411+35081_411+35085del
ENST00000514853.4:c.411+35081_411+35085del	ENSP00000490579.2:n.411+35081_411+35085del
XR_159059.3:n.500+35081_500+35085del
XR_246581.3:n.434+35081_434+35085del
XR_246582.2:n.366+35081_366+35085del
XR_948747.1:n.305-5824_305-5820del
XR_948748.1:n.396+35081_396+35085del
XR_948749.1:n.425+35081_425+35085del
XR_948750.1:n.593+35081_593+35085del
XR_948751.1:n.597+35081_597+35085del
XR_948752.1:n.316+35081_316+35085del
XR_948753.1:n.503+35081_503+35085del
XR_948754.1:n.502+35081_502+35085del
XR_948755.1:n.501+35081_501+35085del
XR_948756.1:n.501+35081_501+35085del
XR_948757.1:n.501+35081_501+35085del
XR_948758.1:n.501+35081_501+35085del
XR_948759.1:n.501+35081_501+35085del
XR_948761.1:n.521-16064_521-16060del
XR_948762.1:n.501+35081_501+35085del
XR_948764.1:n.502+35081_502+35085del
XR_948765.1:n.501+35081_501+35085del
XR_948766.1:n.502-5364_502-5360del
NM_001317938.1:c.468+35081_468+35085del	NP_001304867.1:n.468+35081_468+35085del
XM_017009805.1:c.381+35081_381+35085del	XP_016865294.1:n.381+35081_381+35085del
XM_017009806.2:c.348+35081_348+35085del	XP_016865295.1:n.348+35081_348+35085del
XM_017009807.1:c.348+35081_348+35085del	XP_016865296.1:n.348+35081_348+35085del
XM_017009808.1:c.306+35081_306+35085del	XP_016865297.1:n.306+35081_306+35085del
XM_017009809.2:c.468+35081_468+35085del	XP_016865298.1:n.468+35081_468+35085del
XM_017009810.2:c.468+35081_468+35085del	XP_016865299.1:n.468+35081_468+35085del
XM_017009811.2:c.468+35081_468+35085del	XP_016865300.1:n.468+35081_468+35085del
XM_017009812.2:c.468+35081_468+35085del	XP_016865301.1:n.468+35081_468+35085del
XM_017009813.2:c.469-5364_469-5360del	XP_016865302.1:n.469-5364_469-5360del
XM_024446203.1:c.348+35081_348+35085del	XP_024301971.1:n.348+35081_348+35085del
XR_002956177.1:n.434+35081_434+35085del
XR_948757.3:n.501+35081_501+35085del
NM_001317938.2:c.411+35081_411+35085del MANE Select	NP_001304867.2:n.411+35081_411+35085del