Canonical Allele Identifier: CA2687993841
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96160447-CGCCCGGGGCTGCTGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160456_96160470del , CM000670.2:g.96160456_96160470del GRCh38
NC_000008.10:g.97172684_97172698del , CM000670.1:g.97172684_97172698del GRCh37
NC_000008.9:g.97241860_97241874del NCBI36
NG_008981.1:g.5331_5345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.231_245del MANE Select ENSP00000287020.4:p.Gln78_Ala82del
ENST00000287020.6:c.231_245del ENSP00000287020.4:p.Gln78_Ala82del
ENST00000620978.1:c.231_245del ENSP00000480170.1:p.Gln78_Ala82del
ENST00000621429.1:c.231_245del ENSP00000483711.1:p.Gln78_Ala82del
NM_001001557.2:c.231_245del NP_001001557.1:p.Gln78_Ala82del
NM_001001557.3:c.231_245del NP_001001557.1:p.Gln78_Ala82del
NM_001001557.4:c.231_245del MANE Select NP_001001557.1:p.Gln78_Ala82del
Search 100 bp 5'
Search 100 bp 3'