Canonical Allele Identifier: CA888807324

Gene: GJA5

Linked Data

• dbSNP Id: rs1359810651
• MyVariant Identifiers: chr1:g.147759139_147759140insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759140dup , CM000663.2:g.147759140dup	GRCh38
NC_000001.10:g.147231248dup , CM000663.1:g.147231248dup	GRCh37
NC_000001.9:g.145697872dup	NCBI36
NG_009369.2:g.19235dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.99dup MANE Select	ENSP00000463851.1:p.Met34TyrfsTer9
ENST00000430508.1:c.99dup	ENSP00000407645.1:p.Met34TyrfsTer9
ENST00000579774.2:c.99dup	ENSP00000463851.1:p.Met34TyrfsTer9
ENST00000621517.1:c.99dup	ENSP00000484552.1:p.Met34TyrfsTer9
NM_005266.6:c.99dup	NP_005257.2:p.Met34TyrfsTer9
NM_181703.3:c.99dup	NP_859054.1:p.Met34TyrfsTer9
XM_005272951.3:c.99dup	XP_005273008.1:p.Met34TyrfsTer9
XM_011509415.1:c.99dup	XP_011507717.1:p.Met34TyrfsTer9
XR_922078.1:n.434-18421dup
XR_922079.1:n.434-18421dup
XM_005272951.4:c.99dup	XP_005273008.1:p.Met34TyrfsTer9
XM_017001044.1:c.99dup	XP_016856533.1:p.Met34TyrfsTer9
XR_922079.3:n.744-18421dup
NM_181703.4:c.99dup MANE Select	NP_859054.1:p.Met34TyrfsTer9
NM_005266.7:c.99dup	NP_005257.2:p.Met34TyrfsTer9