Canonical Allele Identifier: CA2781376661
Gene: GDF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144975_96144981del , CM000670.2:g.96144975_96144981del GRCh38
NC_000008.10:g.97157203_97157209del , CM000670.1:g.97157203_97157209del GRCh37
NC_000008.9:g.97226379_97226385del NCBI36
NG_008981.1:g.20813_20819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.951_957del MANE Select ENSP00000287020.4:p.Gly318ArgfsTer?
ENST00000287020.6:c.951_957del ENSP00000287020.4:p.Gly318ArgfsTer?
ENST00000620978.1:c.793+96_793+102del ENSP00000480170.1:n.793+96_793+102del
ENST00000621429.1:c.874+77_874+83del ENSP00000483711.1:n.874+77_874+83del
NM_001001557.2:c.951_957del NP_001001557.1:p.Gly318ArgfsTer?
XM_011517030.1:c.552_558del XP_011515332.1:p.Gly185ArgfsTer?
NM_001001557.3:c.951_957del NP_001001557.1:p.Gly318ArgfsTer?
NM_001001557.4:c.951_957del MANE Select NP_001001557.1:p.Gly318ArgfsTer?