Canonical Allele Identifier: CA616112301

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1567043803
• gnomAD v2: 14-91740131-CAT-C
• gnomAD v3: 14-91273787-CAT-C
• gnomAD v4: 14-91273787-CAT-C
• MyVariant Identifiers: chr14:g.91740132_91740133del (hg19) ; chr14:g.91273788_91273789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273788_91273789del , CM000676.2:g.91273788_91273789del	GRCh38
NC_000014.8:g.91740132_91740133del , CM000676.1:g.91740132_91740133del	GRCh37
NC_000014.7:g.90809885_90809886del	NCBI36
NG_033118.1:g.149056_149057del
NG_033118.2:g.149056_149057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-136_5059-135del MANE Select	ENSP00000374507.6:n.5059-136_5059-135del
ENST00000331194.8:c.631-136_631-135del	ENSP00000330332.8:n.631-136_631-135del
ENST00000334448.5:n.871-136_871-135del
ENST00000389857.10:c.5059-136_5059-135del	ENSP00000374507.6:n.5059-136_5059-135del
ENST00000556726.5:c.1287-136_1287-135del
NM_001080414.3:c.5059-136_5059-135del	NP_001073883.2:n.5059-136_5059-135del
XM_011536796.1:c.4951-136_4951-135del	XP_011535098.1:n.4951-136_4951-135del
XR_429316.2:n.5334-136_5334-135del
XM_011536796.2:c.4951-136_4951-135del	XP_011535098.1:n.4951-136_4951-135del
XM_017021336.1:c.2140-136_2140-135del	XP_016876825.1:n.2140-136_2140-135del
XR_429316.4:n.5332-136_5332-135del
NM_001080414.4:c.5059-136_5059-135del MANE Select	NP_001073883.2:n.5059-136_5059-135del