Canonical Allele Identifier: CA615729335

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1254834508
• gnomAD v2: 14-91771954-CTG-C
• gnomAD v3: 14-91305610-CTG-C
• gnomAD v4: 14-91305610-CTG-C
• MyVariant Identifiers: chr14:g.91771955_91771956del (hg19) ; chr14:g.91305611_91305612del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305612_91305613del , CM000676.2:g.91305612_91305613del	GRCh38
NC_000014.8:g.91771956_91771957del , CM000676.1:g.91771956_91771957del	GRCh37
NC_000014.7:g.90841709_90841710del	NCBI36
NG_033118.1:g.117233_117234del
NG_033118.2:g.117233_117234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3357+153_3357+154del MANE Select	ENSP00000374507.6:n.3357+153_3357+154del
ENST00000389857.10:c.3357+153_3357+154del	ENSP00000374507.6:n.3357+153_3357+154del
NM_001080414.3:c.3357+153_3357+154del	NP_001073883.2:n.3357+153_3357+154del
XM_005267691.3:c.3357+153_3357+154del	XP_005267748.1:n.3357+153_3357+154del
XM_011536796.1:c.3249+153_3249+154del	XP_011535098.1:n.3249+153_3249+154del
XR_429316.2:n.3485+153_3485+154del
XR_943459.1:n.3485+153_3485+154del
XM_005267691.5:c.3357+153_3357+154del	XP_005267748.1:n.3357+153_3357+154del
XM_011536796.2:c.3249+153_3249+154del	XP_011535098.1:n.3249+153_3249+154del
XM_017021335.2:c.3357+153_3357+154del	XP_016876824.1:n.3357+153_3357+154del
XM_017021336.1:c.438+153_438+154del	XP_016876825.1:n.438+153_438+154del
XR_429316.4:n.3483+153_3483+154del
NM_001080414.4:c.3357+153_3357+154del MANE Select	NP_001073883.2:n.3357+153_3357+154del