Canonical Allele Identifier: CA2840294832

Gene: GDF6

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145041_96145042del , CM000670.2:g.96145041_96145042del	GRCh38
NC_000008.10:g.97157269_97157270del , CM000670.1:g.97157269_97157270del	GRCh37
NC_000008.9:g.97226445_97226446del	NCBI36
NG_008981.1:g.20751_20752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.889_890del MANE Select	ENSP00000287020.4:p.Leu297GlyfsTer?
ENST00000287020.6:c.889_890del	ENSP00000287020.4:p.Leu297GlyfsTer?
ENST00000620978.1:c.793+34_793+35del	ENSP00000480170.1:n.793+34_793+35del
ENST00000621429.1:c.874+15_874+16del	ENSP00000483711.1:n.874+15_874+16del
NM_001001557.2:c.889_890del	NP_001001557.1:p.Leu297GlyfsTer?
XM_011517030.1:c.490_491del	XP_011515332.1:p.Leu164GlyfsTer?
NM_001001557.3:c.889_890del	NP_001001557.1:p.Leu297GlyfsTer?
NM_001001557.4:c.889_890del MANE Select	NP_001001557.1:p.Leu297GlyfsTer?