Canonical Allele Identifier: CA583845610
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1563515024
gnomAD v2: 8-97172712-CGCGGCTGTGGTTCCTGGCCCTCCCGGCCCGCGTCACTGTCGCGCG-C
gnomAD v4: 8-96160484-CGCGGCTGTGGTTCCTGGCCCTCCCGGCCCGCGTCACTGTCGCGCG-C
MyVariant Identifiers: chr8:g.97172713_97172757del (hg19) chr8:g.96160485_96160529del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160488_96160532del , CM000670.2:g.96160488_96160532del GRCh38
NC_000008.10:g.97172716_97172760del , CM000670.1:g.97172716_97172760del GRCh37
NC_000008.9:g.97241892_97241936del NCBI36
NG_008981.1:g.5264_5308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.164_208del MANE Select ENSP00000287020.4:p.Pro55_Pro69del
ENST00000287020.6:c.164_208del ENSP00000287020.4:p.Pro55_Pro69del
ENST00000620978.1:c.164_208del ENSP00000480170.1:p.Pro55_Pro69del
ENST00000621429.1:c.164_208del ENSP00000483711.1:p.Pro55_Pro69del
NM_001001557.2:c.164_208del NP_001001557.1:p.Pro55_Pro69del
NM_001001557.3:c.164_208del NP_001001557.1:p.Pro55_Pro69del
NM_001001557.4:c.164_208del MANE Select NP_001001557.1:p.Pro55_Pro69del
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