Canonical Allele Identifier: CA2626131601

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91305714-G-GTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305714_91305715insTTAA , CM000676.2:g.91305714_91305715insTTAA	GRCh38
NC_000014.8:g.91772058_91772059insTTAA , CM000676.1:g.91772058_91772059insTTAA	GRCh37
NC_000014.7:g.90841811_90841812insTTAA	NCBI36
NG_033118.1:g.117130_117131insTTAA
NG_033118.2:g.117130_117131insTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3357+50_3357+51insTTAA MANE Select	ENSP00000374507.6:n.3357+50_3357+51insTTAA
ENST00000389857.10:c.3357+50_3357+51insTTAA	ENSP00000374507.6:n.3357+50_3357+51insTTAA
NM_001080414.3:c.3357+50_3357+51insTTAA	NP_001073883.2:n.3357+50_3357+51insTTAA
XM_005267691.3:c.3357+50_3357+51insTTAA	XP_005267748.1:n.3357+50_3357+51insTTAA
XM_011536796.1:c.3249+50_3249+51insTTAA	XP_011535098.1:n.3249+50_3249+51insTTAA
XR_429316.2:n.3485+50_3485+51insTTAA
XR_943459.1:n.3485+50_3485+51insTTAA
XM_005267691.5:c.3357+50_3357+51insTTAA	XP_005267748.1:n.3357+50_3357+51insTTAA
XM_011536796.2:c.3249+50_3249+51insTTAA	XP_011535098.1:n.3249+50_3249+51insTTAA
XM_017021335.2:c.3357+50_3357+51insTTAA	XP_016876824.1:n.3357+50_3357+51insTTAA
XM_017021336.1:c.438+50_438+51insTTAA	XP_016876825.1:n.438+50_438+51insTTAA
XR_429316.4:n.3483+50_3483+51insTTAA
NM_001080414.4:c.3357+50_3357+51insTTAA MANE Select	NP_001073883.2:n.3357+50_3357+51insTTAA