Canonical Allele Identifier: CA2687993697

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145016-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145019del , CM000670.2:g.96145019del	GRCh38
NC_000008.10:g.97157247del , CM000670.1:g.97157247del	GRCh37
NC_000008.9:g.97226423del	NCBI36
NG_008981.1:g.20776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.914del MANE Select	ENSP00000287020.4:p.Pro305ArgfsTer?
ENST00000287020.6:c.914del	ENSP00000287020.4:p.Pro305ArgfsTer?
ENST00000620978.1:c.793+59del	ENSP00000480170.1:n.793+59del
ENST00000621429.1:c.874+40del	ENSP00000483711.1:n.874+40del
NM_001001557.2:c.914del	NP_001001557.1:p.Pro305ArgfsTer?
XM_011517030.1:c.515del	XP_011515332.1:p.Pro172ArgfsTer?
NM_001001557.3:c.914del	NP_001001557.1:p.Pro305ArgfsTer?
NM_001001557.4:c.914del MANE Select	NP_001001557.1:p.Pro305ArgfsTer?