Canonical Allele Identifier: CA2687993842
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96160456-C-CTGCTGAGCCCGGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160458_96160472dup , CM000670.2:g.96160458_96160472dup GRCh38
NC_000008.10:g.97172686_97172700dup , CM000670.1:g.97172686_97172700dup GRCh37
NC_000008.9:g.97241862_97241876dup NCBI36
NG_008981.1:g.5322_5336dup

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.222_236dup MANE Select ENSP00000287020.4:p.Gln79_Pro80insProArgAlaGlnGln
ENST00000287020.6:c.222_236dup ENSP00000287020.4:p.Gln79_Pro80insProArgAlaGlnGln
ENST00000620978.1:c.222_236dup ENSP00000480170.1:p.Gln79_Pro80insProArgAlaGlnGln
ENST00000621429.1:c.222_236dup ENSP00000483711.1:p.Gln79_Pro80insProArgAlaGlnGln
NM_001001557.2:c.222_236dup NP_001001557.1:p.Gln79_Pro80insProArgAlaGlnGln
NM_001001557.3:c.222_236dup NP_001001557.1:p.Gln79_Pro80insProArgAlaGlnGln
NM_001001557.4:c.222_236dup MANE Select NP_001001557.1:p.Gln79_Pro80insProArgAlaGlnGln
Search 100 bp 5'
Search 100 bp 3'