Canonical Allele Identifier: CA2781376667
Gene: GDF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144998_96144999insAGA , CM000670.2:g.96144998_96144999insAGA GRCh38
NC_000008.10:g.97157226_97157227insAGA , CM000670.1:g.97157226_97157227insAGA GRCh37
NC_000008.9:g.97226402_97226403insAGA NCBI36
NG_008981.1:g.20794_20795insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.932_933insTCT MANE Select ENSP00000287020.4:p.Gly311_Ser312insLeu
ENST00000287020.6:c.932_933insTCT ENSP00000287020.4:p.Gly311_Ser312insLeu
ENST00000620978.1:c.793+77_793+78insTCT ENSP00000480170.1:n.793+77_793+78insTCT
ENST00000621429.1:c.874+58_874+59insTCT ENSP00000483711.1:n.874+58_874+59insTCT
NM_001001557.2:c.932_933insTCT NP_001001557.1:p.Gly311_Ser312insLeu
XM_011517030.1:c.533_534insTCT XP_011515332.1:p.Gly178_Ser179insLeu
NM_001001557.3:c.932_933insTCT NP_001001557.1:p.Gly311_Ser312insLeu
NM_001001557.4:c.932_933insTCT MANE Select NP_001001557.1:p.Gly311_Ser312insLeu