Canonical Allele Identifier: CA616112270

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1397384284
• gnomAD v2: 14-91739127-GC-G
• MyVariant Identifiers: chr14:g.91739128del (hg19) ; chr14:g.91272784del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272787del , CM000676.2:g.91272787del	GRCh38
NC_000014.8:g.91739131del , CM000676.1:g.91739131del	GRCh37
NC_000014.7:g.90808884del	NCBI36
NG_033118.1:g.150061del
NG_033118.2:g.150061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5928del MANE Select	ENSP00000374507.6:p.Leu1977PhefsTer?
ENST00000331194.8:c.1362del	ENSP00000330332.8:p.Leu455PhefsTer?
ENST00000389857.10:c.5928del	ENSP00000374507.6:p.Leu1977PhefsTer?
ENST00000556726.5:c.2156del
NM_001080414.3:c.5928del	NP_001073883.2:p.Leu1977PhefsTer?
XM_011536796.1:c.5820del	XP_011535098.1:p.Leu1941PhefsTer?
XM_011536796.2:c.5820del	XP_011535098.1:p.Leu1941PhefsTer?
XM_017021336.1:c.3009del	XP_016876825.1:p.Leu1004PhefsTer?
NM_001080414.4:c.5928del MANE Select	NP_001073883.2:p.Leu1977PhefsTer?