Canonical Allele Identifier: CA2840294838
Gene: GDF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145183_96145185del , CM000670.2:g.96145183_96145185del GRCh38
NC_000008.10:g.97157411_97157413del , CM000670.1:g.97157411_97157413del GRCh37
NC_000008.9:g.97226587_97226589del NCBI36
NG_008981.1:g.20608_20610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.746_748del MANE Select ENSP00000287020.4:p.Ala249_Arg250delinsGly
ENST00000287020.6:c.746_748del ENSP00000287020.4:p.Ala249_Arg250delinsGly
ENST00000620978.1:c.707-23_707-21del ENSP00000480170.1:n.707-23_707-21del
ENST00000621429.1:c.746_748del ENSP00000483711.1:p.Ala249_Arg250delinsGly
NM_001001557.2:c.746_748del NP_001001557.1:p.Ala249_Arg250delinsGly
XM_011517030.1:c.347_349del XP_011515332.1:p.Ala116_Arg117delinsGly
NM_001001557.3:c.746_748del NP_001001557.1:p.Ala249_Arg250delinsGly
NM_001001557.4:c.746_748del MANE Select NP_001001557.1:p.Ala249_Arg250delinsGly