Canonical Allele Identifier: CA265516505

Gene: CCDC88C

Linked Data

• dbSNP Id: rs377242000
• gnomAD v2: 14-91738720-ATTAT-A
• gnomAD v3: 14-91272376-ATTAT-A
• gnomAD v4: 14-91272376-ATTAT-A
• MyVariant Identifiers: chr14:g.91738721_91738724del (hg19) ; chr14:g.91272377_91272380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272379_91272382del , CM000676.2:g.91272379_91272382del	GRCh38
NC_000014.8:g.91738723_91738726del , CM000676.1:g.91738723_91738726del	GRCh37
NC_000014.7:g.90808476_90808479del	NCBI36
NG_033118.1:g.150465_150468del
NG_033118.2:g.150465_150468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*245_*248del MANE Select	ENSP00000374507.6:n.*245_*248del
ENST00000331194.8:c.*245_*248del	ENSP00000330332.8:n.*245_*248del
ENST00000389857.10:c.*245_*248del	ENSP00000374507.6:n.*245_*248del
ENST00000556726.5:c.2560_2563del
NM_001080414.3:c.*245_*248del	NP_001073883.2:n.*245_*248del
XM_011536796.1:c.*245_*248del	XP_011535098.1:n.*245_*248del
XM_011536796.2:c.*245_*248del	XP_011535098.1:n.*245_*248del
XM_017021336.1:c.*245_*248del	XP_016876825.1:n.*245_*248del
NM_001080414.4:c.*245_*248del MANE Select	NP_001073883.2:n.*245_*248del