Canonical Allele Identifier: CA1116878490

Gene: GDF6

Linked Data

• dbSNP Id: rs763824384
• gnomAD v3: 8-96145181-C-CCG
• gnomAD v4: 8-96145181-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145191_96145192dup , CM000670.2:g.96145191_96145192dup	GRCh38
NC_000008.10:g.97157419_97157420dup , CM000670.1:g.97157419_97157420dup	GRCh37
NC_000008.9:g.97226595_97226596dup	NCBI36
NG_008981.1:g.20610_20611dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.748_749dup MANE Select	ENSP00000287020.4:p.Pro252AspfsTer?
ENST00000287020.6:c.748_749dup	ENSP00000287020.4:p.Pro252AspfsTer?
ENST00000620978.1:c.707-21_707-20dup	ENSP00000480170.1:n.707-21_707-20dup
ENST00000621429.1:c.748_749dup	ENSP00000483711.1:p.Pro252AspfsTer?
NM_001001557.2:c.748_749dup	NP_001001557.1:p.Pro252AspfsTer?
XM_011517030.1:c.349_350dup	XP_011515332.1:p.Pro119AspfsTer?
NM_001001557.3:c.748_749dup	NP_001001557.1:p.Pro252AspfsTer?
NM_001001557.4:c.748_749dup MANE Select	NP_001001557.1:p.Pro252AspfsTer?