Canonical Allele Identifier: CA2579211101

Gene: GDF6

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96144926_96144928dup , CM000670.2:g.96144926_96144928dup	GRCh38
NC_000008.10:g.97157154_97157156dup , CM000670.1:g.97157154_97157156dup	GRCh37
NC_000008.9:g.97226330_97226332dup	NCBI36
NG_008981.1:g.20865_20867dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001001557.4:c.1003_1005dup MANE Select	NP_001001557.1:p.Arg335_Thr336insArg
ENST00000287020.7:c.1003_1005dup MANE Select	ENSP00000287020.4:p.Arg335_Thr336insArg
NM_001001557.2:c.1003_1005dup	NP_001001557.1:p.Arg335_Thr336insArg
NM_001001557.3:c.1003_1005dup	NP_001001557.1:p.Arg335_Thr336insArg
ENST00000287020.6:c.1003_1005dup	ENSP00000287020.4:p.Arg335_Thr336insArg
ENST00000620978.1:c.793+148_793+150dup	ENSP00000480170.1:n.793+148_793+150dup
ENST00000621429.1:c.875-123_875-121dup	ENSP00000483711.1:n.875-123_875-121dup
XM_011517030.1:c.604_606dup	XP_011515332.1:p.Arg202_Thr203insArg