Canonical Allele Identifier: CA30069176

Gene: GJA5

Linked Data

• dbSNP Id: rs779926510
• MyVariant Identifiers: chr1:g.147231147_147231148insCGTA (hg19) ; chr1:g.147759039_147759040insCGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759040_147759043dup , CM000663.2:g.147759040_147759043dup	GRCh38
NC_000001.10:g.147231148_147231151dup , CM000663.1:g.147231148_147231151dup	GRCh37
NC_000001.9:g.145697772_145697775dup	NCBI36
NG_009369.2:g.19332_19335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.196_199dup MANE Select	ENSP00000463851.1:p.Asp67ValfsTer?
ENST00000430508.1:c.196_199dup	ENSP00000407645.1:p.Asp67ValfsTer?
ENST00000579774.2:c.196_199dup	ENSP00000463851.1:p.Asp67ValfsTer?
ENST00000621517.1:c.196_199dup	ENSP00000484552.1:p.Asp67ValfsTer?
NM_005266.6:c.196_199dup	NP_005257.2:p.Asp67ValfsTer?
NM_181703.3:c.196_199dup	NP_859054.1:p.Asp67ValfsTer?
XM_005272951.3:c.196_199dup	XP_005273008.1:p.Asp67ValfsTer?
XM_011509415.1:c.196_199dup	XP_011507717.1:p.Asp67ValfsTer?
XR_922078.1:n.434-18521_434-18518dup
XR_922079.1:n.434-18521_434-18518dup
XM_005272951.4:c.196_199dup	XP_005273008.1:p.Asp67ValfsTer?
XM_017001044.1:c.196_199dup	XP_016856533.1:p.Asp67ValfsTer?
XR_922079.3:n.744-18521_744-18518dup
NM_181703.4:c.196_199dup MANE Select	NP_859054.1:p.Asp67ValfsTer?
NM_005266.7:c.196_199dup	NP_005257.2:p.Asp67ValfsTer?