Canonical Allele Identifier: CA2687993704

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145044-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145045_96145046del , CM000670.2:g.96145045_96145046del	GRCh38
NC_000008.10:g.97157273_97157274del , CM000670.1:g.97157273_97157274del	GRCh37
NC_000008.9:g.97226449_97226450del	NCBI36
NG_008981.1:g.20747_20748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.885_886del MANE Select	ENSP00000287020.4:p.Gln296AlafsTer?
ENST00000287020.6:c.885_886del	ENSP00000287020.4:p.Gln296AlafsTer?
ENST00000620978.1:c.793+30_793+31del	ENSP00000480170.1:n.793+30_793+31del
ENST00000621429.1:c.874+11_874+12del	ENSP00000483711.1:n.874+11_874+12del
NM_001001557.2:c.885_886del	NP_001001557.1:p.Gln296AlafsTer?
XM_011517030.1:c.486_487del	XP_011515332.1:p.Gln163AlafsTer?
NM_001001557.3:c.885_886del	NP_001001557.1:p.Gln296AlafsTer?
NM_001001557.4:c.885_886del MANE Select	NP_001001557.1:p.Gln296AlafsTer?