Canonical Allele Identifier: CA265517733

Gene: CCDC88C

Linked Data

• dbSNP Id: rs780871643
• gnomAD v4: 14-91338248-CTCCACGACGGCCCAGG-C
• MyVariant Identifiers: chr14:g.91804593_91804608del (hg19) ; chr14:g.91338249_91338264del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338249_91338264del , CM000676.2:g.91338249_91338264del	GRCh38
NC_000014.8:g.91804593_91804608del , CM000676.1:g.91804593_91804608del	GRCh37
NC_000014.7:g.90874346_90874361del	NCBI36
NG_033118.1:g.84581_84596del
NG_033118.2:g.84581_84596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.892-101_892-86del MANE Select	ENSP00000374507.6:n.892-101_892-86del
ENST00000389857.10:c.892-101_892-86del	ENSP00000374507.6:n.892-101_892-86del
ENST00000554051.1:n.369-101_369-86del
NM_001080414.3:c.892-101_892-86del	NP_001073883.2:n.892-101_892-86del
XM_005267691.3:c.892-101_892-86del	XP_005267748.1:n.892-101_892-86del
XM_011536796.1:c.784-101_784-86del	XP_011535098.1:n.784-101_784-86del
XR_429316.2:n.1020-101_1020-86del
XR_943459.1:n.1020-101_1020-86del
XM_005267691.5:c.892-101_892-86del	XP_005267748.1:n.892-101_892-86del
XM_011536796.2:c.784-101_784-86del	XP_011535098.1:n.784-101_784-86del
XM_017021335.2:c.892-101_892-86del	XP_016876824.1:n.892-101_892-86del
XM_017021337.2:c.892-101_892-86del	XP_016876826.1:n.892-101_892-86del
XR_429316.4:n.1018-101_1018-86del
NM_001080414.4:c.892-101_892-86del MANE Select	NP_001073883.2:n.892-101_892-86del