Canonical Allele Identifier: CA7308749

Gene: CCDC88C

Linked Data

• dbSNP Id: rs766410191
• ExAC: 14:91740011 A / AGTGAAGGTTGGAGGTGGGC
• gnomAD v2: 14-91740011-A-AGTGAAGGTTGGAGGTGGGC
• gnomAD v4: 14-91273667-A-AGTGAAGGTTGGAGGTGGGC
• MyVariant Identifiers: chr14:g.91740011_91740012insGTGAAGGTTGGAGGTGGGC (hg19) ; chr14:g.91273667_91273668insGTGAAGGTTGGAGGTGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273668_91273686dup , CM000676.2:g.91273668_91273686dup	GRCh38
NC_000014.8:g.91740012_91740030dup , CM000676.1:g.91740012_91740030dup	GRCh37
NC_000014.7:g.90809765_90809783dup	NCBI36
NG_033118.1:g.149159_149177dup
NG_033118.2:g.149159_149177dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-33_5059-15dup MANE Select	ENSP00000374507.6:n.5059-33_5059-15dup
ENST00000331194.8:c.631-33_631-15dup	ENSP00000330332.8:n.631-33_631-15dup
ENST00000334448.5:n.871-33_871-15dup
ENST00000389857.10:c.5059-33_5059-15dup	ENSP00000374507.6:n.5059-33_5059-15dup
ENST00000556726.5:c.1287-33_1287-15dup
NM_001080414.3:c.5059-33_5059-15dup	NP_001073883.2:n.5059-33_5059-15dup
XM_011536796.1:c.4951-33_4951-15dup	XP_011535098.1:n.4951-33_4951-15dup
XR_429316.2:n.5334-33_5334-15dup
XM_011536796.2:c.4951-33_4951-15dup	XP_011535098.1:n.4951-33_4951-15dup
XM_017021336.1:c.2140-33_2140-15dup	XP_016876825.1:n.2140-33_2140-15dup
XR_429316.4:n.5332-33_5332-15dup
NM_001080414.4:c.5059-33_5059-15dup MANE Select	NP_001073883.2:n.5059-33_5059-15dup