Canonical Allele Identifier: CA2626131140

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313603-T-TCCTTCTCACGCTCCAGCTGCTGGTTCTCCCTCTCCATCTGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313606_91313647dup , CM000676.2:g.91313606_91313647dup	GRCh38
NC_000014.8:g.91779950_91779991dup , CM000676.1:g.91779950_91779991dup	GRCh37
NC_000014.7:g.90849703_90849744dup	NCBI36
NG_033118.1:g.109200_109241dup
NG_033118.2:g.109200_109241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2171_2212dup MANE Select	ENSP00000374507.6:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnG...
ENST00000389857.10:c.2171_2212dup	ENSP00000374507.6:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnG...
NM_001080414.3:c.2171_2212dup	NP_001073883.2:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnGlnL...
XM_005267691.3:c.2171_2212dup	XP_005267748.1:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnGlnL...
XM_011536796.1:c.2063_2104dup	XP_011535098.1:p.Lys701_Glu702insAlaGlnMetGluArgGluAsnGlnGlnL...
XR_429316.2:n.2299_2340dup
XR_943459.1:n.2299_2340dup
XM_005267691.5:c.2171_2212dup	XP_005267748.1:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnGlnL...
XM_011536796.2:c.2063_2104dup	XP_011535098.1:p.Lys701_Glu702insAlaGlnMetGluArgGluAsnGlnGlnL...
XM_017021335.2:c.2171_2212dup	XP_016876824.1:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnGlnL...
XM_017021337.2:c.2171_2212dup	XP_016876826.1:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnGlnL...
XR_429316.4:n.2297_2338dup
NM_001080414.4:c.2171_2212dup MANE Select	NP_001073883.2:p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnGlnL...