Canonical Allele Identifier: CA548492259

Gene: CCDC50

Linked Data

• dbSNP Id: rs1446587219
• gnomAD v2: 3-191074971-G-GTTTTCTTT
• MyVariant Identifiers: chr3:g.191074971_191074972insTTTTCTTT (hg19) ; chr3:g.191357182_191357183insTTTTCTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357187_191357194dup , CM000665.2:g.191357187_191357194dup	GRCh38
NC_000003.11:g.191074976_191074983dup , CM000665.1:g.191074976_191074983dup	GRCh37
NC_000003.10:g.192557670_192557677dup	NCBI36
NG_008994.1:g.33103_33110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+37_112+44dup MANE Select	ENSP00000376249.4:n.112+37_112+44dup
ENST00000392456.4:c.112+37_112+44dup	ENSP00000376250.4:n.112+37_112+44dup
ENST00000392455.7:c.112+37_112+44dup	ENSP00000376249.3:n.112+37_112+44dup
ENST00000392456.3:c.112+37_112+44dup	ENSP00000376250.3:n.112+37_112+44dup
NM_174908.3:c.112+37_112+44dup	NP_777568.1:n.112+37_112+44dup
NM_178335.2:c.112+37_112+44dup	NP_848018.1:n.112+37_112+44dup
XM_011512460.1:c.112+37_112+44dup	XP_011510762.1:n.112+37_112+44dup
NM_178335.3:c.112+37_112+44dup MANE Select	NP_848018.1:n.112+37_112+44dup
NM_174908.4:c.112+37_112+44dup	NP_777568.1:n.112+37_112+44dup