Canonical Allele Identifier: CA2625407616

Gene: ACTN1

Linked Data

• gnomAD v4: 14-68978846-CGCCCGGAACCGGTTCAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68978854_68978871del , CM000676.2:g.68978854_68978871del	GRCh38
NC_000014.8:g.69445571_69445588del , CM000676.1:g.69445571_69445588del	GRCh37
NC_000014.7:g.68515324_68515341del	NCBI36
NG_029480.1:g.5503_5520del , LRG_886:g.5503_5520del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682130.1:n.393+88_393+105del
ENST00000682291.1:c.105+88_105+105del	ENSP00000507093.1:n.105+88_105+105del
ENST00000682298.1:n.393+88_393+105del
ENST00000682331.1:c.105+88_105+105del	ENSP00000508329.1:n.105+88_105+105del
ENST00000682378.1:n.393+88_393+105del
ENST00000682381.1:n.393+88_393+105del
ENST00000682559.1:c.105+88_105+105del	ENSP00000507271.1:n.105+88_105+105del
ENST00000682602.1:n.199+88_199+105del
ENST00000683069.1:n.393+88_393+105del
ENST00000683198.1:c.105+88_105+105del	ENSP00000507889.1:n.105+88_105+105del
ENST00000683261.1:n.393+88_393+105del
ENST00000683267.1:c.105+88_105+105del	ENSP00000508356.1:n.105+88_105+105del
ENST00000683342.1:c.105+88_105+105del	ENSP00000508301.1:n.105+88_105+105del
ENST00000683780.1:n.393+88_393+105del
ENST00000684146.1:n.393+88_393+105del
ENST00000684340.1:n.393+88_393+105del
ENST00000684598.1:c.105+88_105+105del	ENSP00000507785.1:n.105+88_105+105del
ENST00000684638.1:c.105+88_105+105del	ENSP00000507609.1:n.105+88_105+105del
ENST00000684639.1:c.105+88_105+105del	ENSP00000507653.1:n.105+88_105+105del
ENST00000684713.1:c.105+88_105+105del	ENSP00000507155.1:n.105+88_105+105del
ENST00000394419.9:c.105+88_105+105del MANE Select	ENSP00000377941.4:n.105+88_105+105del
ENST00000679147.1:c.105+88_105+105del	ENSP00000504355.1:n.105+88_105+105del
ENST00000193403.10:c.105+88_105+105del	ENSP00000193403.6:n.105+88_105+105del
ENST00000394419.8:c.105+88_105+105del	ENSP00000377941.4:n.105+88_105+105del
ENST00000438964.6:c.105+88_105+105del	ENSP00000414272.2:n.105+88_105+105del
ENST00000538545.6:c.105+88_105+105del	ENSP00000439828.2:n.105+88_105+105del
ENST00000556203.1:n.80+88_80+105del
NM_001102.3:c.105+88_105+105del	NP_001093.1:n.105+88_105+105del
NM_001130004.1:c.105+88_105+105del , LRG_886t1:c.105+88_105+105del	NP_001123476.1:n.105+88_105+105del
NM_001130005.1:c.105+88_105+105del	NP_001123477.1:n.105+88_105+105del
XM_011537269.1:c.105+88_105+105del	XP_011535571.1:n.105+88_105+105del
XM_017021722.2:c.105+88_105+105del	XP_016877211.1:n.105+88_105+105del
XM_017021723.2:c.105+88_105+105del	XP_016877212.1:n.105+88_105+105del
XM_017021727.2:c.105+88_105+105del	XP_016877216.1:n.105+88_105+105del
NM_001102.4:c.105+88_105+105del	NP_001093.1:n.105+88_105+105del
NM_001130005.2:c.105+88_105+105del	NP_001123477.1:n.105+88_105+105del
NM_001130004.2:c.105+88_105+105del MANE Select	NP_001123476.1:n.105+88_105+105del