Canonical Allele Identifier: CA4815414
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs763824384
ExAC: 8:97157409 CCG / C
gnomAD v2: 8-97157409-CCG-C
gnomAD v4: 8-96145181-CCG-C
COSMIC: COSM5668347
MyVariant Identifiers: chr8:g.97157410_97157411del (hg19) chr8:g.96145183_96145184del (hg38) chr8:g.96145182_96145183del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145191_96145192del , CM000670.2:g.96145191_96145192del GRCh38
NC_000008.10:g.97157419_97157420del , CM000670.1:g.97157419_97157420del GRCh37
NC_000008.9:g.97226595_97226596del NCBI36
NG_008981.1:g.20610_20611del

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.748_749del MANE Select ENSP00000287020.4:p.Arg250GlyfsTer?
ENST00000287020.6:c.748_749del ENSP00000287020.4:p.Arg250GlyfsTer?
ENST00000620978.1:c.707-21_707-20del ENSP00000480170.1:n.707-21_707-20del
ENST00000621429.1:c.748_749del ENSP00000483711.1:p.Arg250GlyfsTer?
NM_001001557.2:c.748_749del NP_001001557.1:p.Arg250GlyfsTer?
XM_011517030.1:c.349_350del XP_011515332.1:p.Arg117GlyfsTer?
NM_001001557.3:c.748_749del NP_001001557.1:p.Arg250GlyfsTer?
NM_001001557.4:c.748_749del MANE Select NP_001001557.1:p.Arg250GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'