Canonical Allele Identifier: CA708027427

Gene: ACTN1

Linked Data

• dbSNP Id: rs1279024986
• gnomAD v3: 14-68978876-A-AGAGC
• gnomAD v4: 14-68978876-A-AGAGC
• MyVariant Identifiers: chr14:g.69445593_69445594insGAGC (hg19) ; chr14:g.68978876_68978877insGAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68978877_68978880dup , CM000676.2:g.68978877_68978880dup	GRCh38
NC_000014.8:g.69445594_69445597dup , CM000676.1:g.69445594_69445597dup	GRCh37
NC_000014.7:g.68515347_68515350dup	NCBI36
NG_029480.1:g.5487_5490dup , LRG_886:g.5487_5490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682130.1:n.393+72_393+75dup
ENST00000682291.1:c.105+72_105+75dup	ENSP00000507093.1:n.105+72_105+75dup
ENST00000682298.1:n.393+72_393+75dup
ENST00000682331.1:c.105+72_105+75dup	ENSP00000508329.1:n.105+72_105+75dup
ENST00000682378.1:n.393+72_393+75dup
ENST00000682381.1:n.393+72_393+75dup
ENST00000682559.1:c.105+72_105+75dup	ENSP00000507271.1:n.105+72_105+75dup
ENST00000682602.1:n.199+72_199+75dup
ENST00000683069.1:n.393+72_393+75dup
ENST00000683198.1:c.105+72_105+75dup	ENSP00000507889.1:n.105+72_105+75dup
ENST00000683261.1:n.393+72_393+75dup
ENST00000683267.1:c.105+72_105+75dup	ENSP00000508356.1:n.105+72_105+75dup
ENST00000683342.1:c.105+72_105+75dup	ENSP00000508301.1:n.105+72_105+75dup
ENST00000683780.1:n.393+72_393+75dup
ENST00000684146.1:n.393+72_393+75dup
ENST00000684340.1:n.393+72_393+75dup
ENST00000684598.1:c.105+72_105+75dup	ENSP00000507785.1:n.105+72_105+75dup
ENST00000684638.1:c.105+72_105+75dup	ENSP00000507609.1:n.105+72_105+75dup
ENST00000684639.1:c.105+72_105+75dup	ENSP00000507653.1:n.105+72_105+75dup
ENST00000684713.1:c.105+72_105+75dup	ENSP00000507155.1:n.105+72_105+75dup
ENST00000394419.9:c.105+72_105+75dup MANE Select	ENSP00000377941.4:n.105+72_105+75dup
ENST00000679147.1:c.105+72_105+75dup	ENSP00000504355.1:n.105+72_105+75dup
ENST00000193403.10:c.105+72_105+75dup	ENSP00000193403.6:n.105+72_105+75dup
ENST00000394419.8:c.105+72_105+75dup	ENSP00000377941.4:n.105+72_105+75dup
ENST00000438964.6:c.105+72_105+75dup	ENSP00000414272.2:n.105+72_105+75dup
ENST00000538545.6:c.105+72_105+75dup	ENSP00000439828.2:n.105+72_105+75dup
ENST00000556203.1:n.80+72_80+75dup
NM_001102.3:c.105+72_105+75dup	NP_001093.1:n.105+72_105+75dup
NM_001130004.1:c.105+72_105+75dup , LRG_886t1:c.105+72_105+75dup	NP_001123476.1:n.105+72_105+75dup
NM_001130005.1:c.105+72_105+75dup	NP_001123477.1:n.105+72_105+75dup
XM_011537269.1:c.105+72_105+75dup	XP_011535571.1:n.105+72_105+75dup
XM_017021722.2:c.105+72_105+75dup	XP_016877211.1:n.105+72_105+75dup
XM_017021723.2:c.105+72_105+75dup	XP_016877212.1:n.105+72_105+75dup
XM_017021727.2:c.105+72_105+75dup	XP_016877216.1:n.105+72_105+75dup
NM_001102.4:c.105+72_105+75dup	NP_001093.1:n.105+72_105+75dup
NM_001130005.2:c.105+72_105+75dup	NP_001123477.1:n.105+72_105+75dup
NM_001130004.2:c.105+72_105+75dup MANE Select	NP_001123476.1:n.105+72_105+75dup