Canonical Allele Identifier: CA8703692

Gene: CCDC47

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63752378del , CM000679.2:g.63752378del	GRCh38
NC_000017.10:g.61829738del , CM000679.1:g.61829738del	GRCh37
NC_000017.9:g.59183470del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_020198.3:c.1145del MANE Select	NP_064583.2:p.Leu382ArgfsTer2
ENST00000225726.10:c.1145del MANE Select	ENSP00000225726.5:p.Leu382ArgfsTer2
NM_020198.2:c.1145del	NP_064583.2:p.Leu382ArgfsTer2
ENST00000225726.9:c.1145del	ENSP00000225726.5:p.Leu382ArgfsTer2
ENST00000403162.7:c.1145del	ENSP00000384888.3:p.Leu382ArgfsTer2
ENST00000582252.1:c.1145del	ENSP00000463577.1:p.Leu382ArgfsTer2
ENST00000612558.4:c.266del	ENSP00000482148.1:p.Leu89ArgfsTer2
XM_005257527.1:c.1145del	XP_005257584.1:p.Leu382ArgfsTer2
XM_005257527.2:c.1145del	XP_005257584.1:p.Leu382ArgfsTer2