Canonical Allele Identifier: CA2154900253

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272736_91272737delinsGA , CM000676.2:g.91272736_91272737delinsGA	GRCh38
NC_000014.8:g.91739080_91739081delinsGA , CM000676.1:g.91739080_91739081delinsGA	GRCh37
NC_000014.7:g.90808833_90808834delinsGA	NCBI36
NG_033118.1:g.150108_150109delinsTC
NG_033118.2:g.150108_150109delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5975_5976delinsTC MANE Select	ENSP00000374507.6:p.Leu1992=
ENST00000331194.8:c.1409_1410delinsTC	ENSP00000330332.8:p.Leu470=
ENST00000389857.10:c.5975_5976delinsTC	ENSP00000374507.6:p.Leu1992=
ENST00000556726.5:c.2203_2204delinsTC
NM_001080414.3:c.5975_5976delinsTC	NP_001073883.2:p.Leu1992=
XM_011536796.1:c.5867_5868delinsTC	XP_011535098.1:p.Leu1956=
XM_011536796.2:c.5867_5868delinsTC	XP_011535098.1:p.Leu1956=
XM_017021336.1:c.3056_3057delinsTC	XP_016876825.1:p.Leu1019=
NM_001080414.4:c.5975_5976delinsTC MANE Select	NP_001073883.2:p.Leu1992=