Canonical Allele Identifier: CA912980397

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35086858_35086859insGGGGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794661_34794662insAGGGG , CM000677.2:g.34794661_34794662insAGGGG	GRCh38
NC_000015.9:g.35086862_35086863insAGGGG , CM000677.1:g.35086862_35086863insAGGGG	GRCh37
NC_000015.8:g.32874154_32874155insAGGGG	NCBI36
NG_007553.1:g.6069_6070insTCCCC , LRG_388:g.6069_6070insTCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.235+22_235+23insTCCCC (ACTC1)
ENST00000290378.6:c.129+22_129+23insTCCCC (ACTC1) MANE Select	ENSP00000290378.4:n.129+22_129+23insTCCCC...
ENST00000290378.4:c.129+22_129+23insTCCCC (ACTC1)	ENSP00000290378.4:n.129+22_129+23insTCCCC...
NM_005159.4:c.129+22_129+23insTCCCC , LRG_388t1:c.129+22_129+23insTCCCC (ACTC1)	NP_005150.1:n.129+22_129+23insTCCCC
NR_120329.1:n.300-15835_300-15834insAGGGG (GJD2-DT)
NM_005159.5:c.129+22_129+23insTCCCC (ACTC1) MANE Select	NP_005150.1:n.129+22_129+23insTCCCC