Canonical Allele Identifier: CA1057750869

Gene: CCDC50

Linked Data

• gnomAD v3: 3-191357005-AGT-A
• gnomAD v4: 3-191357005-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357006_191357007del , CM000665.2:g.191357006_191357007del	GRCh38
NC_000003.11:g.191074795_191074796del , CM000665.1:g.191074795_191074796del	GRCh37
NC_000003.10:g.192557489_192557490del	NCBI36
NG_008994.1:g.32922_32923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.50-82_50-81del MANE Select	ENSP00000376249.4:n.50-82_50-81del
ENST00000392456.4:c.50-82_50-81del	ENSP00000376250.4:n.50-82_50-81del
ENST00000392455.7:c.50-82_50-81del	ENSP00000376249.3:n.50-82_50-81del
ENST00000392456.3:c.50-82_50-81del	ENSP00000376250.3:n.50-82_50-81del
NM_174908.3:c.50-82_50-81del	NP_777568.1:n.50-82_50-81del
NM_178335.2:c.50-82_50-81del	NP_848018.1:n.50-82_50-81del
XM_011512460.1:c.50-82_50-81del	XP_011510762.1:n.50-82_50-81del
NM_178335.3:c.50-82_50-81del MANE Select	NP_848018.1:n.50-82_50-81del
NM_174908.4:c.50-82_50-81del	NP_777568.1:n.50-82_50-81del