Canonical Allele Identifier: CA2606992345

Gene: CCDC50

Linked Data

• dbSNP Id: rs2108648382
• gnomAD v3: 3-191357268-C-CAAA
• gnomAD v4: 3-191357268-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357269_191357270insAAA , CM000665.2:g.191357269_191357270insAAA	GRCh38
NC_000003.11:g.191075058_191075059insAAA , CM000665.1:g.191075058_191075059insAAA	GRCh37
NC_000003.10:g.192557752_192557753insAAA	NCBI36
NG_008994.1:g.33185_33186insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+119_112+120insAAA MANE Select	ENSP00000376249.4:n.112+119_112+120insAAA
ENST00000392456.4:c.112+119_112+120insAAA	ENSP00000376250.4:n.112+119_112+120insAAA
ENST00000392455.7:c.112+119_112+120insAAA	ENSP00000376249.3:n.112+119_112+120insAAA
ENST00000392456.3:c.112+119_112+120insAAA	ENSP00000376250.3:n.112+119_112+120insAAA
NM_174908.3:c.112+119_112+120insAAA	NP_777568.1:n.112+119_112+120insAAA
NM_178335.2:c.112+119_112+120insAAA	NP_848018.1:n.112+119_112+120insAAA
XM_011512460.1:c.112+119_112+120insAAA	XP_011510762.1:n.112+119_112+120insAAA
NM_178335.3:c.112+119_112+120insAAA MANE Select	NP_848018.1:n.112+119_112+120insAAA
NM_174908.4:c.112+119_112+120insAAA	NP_777568.1:n.112+119_112+120insAAA