Canonical Allele Identifier: CA2669071565

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191357187-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357193_191357194del , CM000665.2:g.191357193_191357194del	GRCh38
NC_000003.11:g.191074982_191074983del , CM000665.1:g.191074982_191074983del	GRCh37
NC_000003.10:g.192557676_192557677del	NCBI36
NG_008994.1:g.33109_33110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+43_112+44del MANE Select	ENSP00000376249.4:n.112+43_112+44del
ENST00000392456.4:c.112+43_112+44del	ENSP00000376250.4:n.112+43_112+44del
ENST00000392455.7:c.112+43_112+44del	ENSP00000376249.3:n.112+43_112+44del
ENST00000392456.3:c.112+43_112+44del	ENSP00000376250.3:n.112+43_112+44del
NM_174908.3:c.112+43_112+44del	NP_777568.1:n.112+43_112+44del
NM_178335.2:c.112+43_112+44del	NP_848018.1:n.112+43_112+44del
XM_011512460.1:c.112+43_112+44del	XP_011510762.1:n.112+43_112+44del
NM_178335.3:c.112+43_112+44del MANE Select	NP_848018.1:n.112+43_112+44del
NM_174908.4:c.112+43_112+44del	NP_777568.1:n.112+43_112+44del