Canonical Allele Identifier: CA968569533

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v3: 15-34791307-T-TAACA
• gnomAD v4: 15-34791307-T-TAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791307_34791308insAACA , CM000677.2:g.34791307_34791308insAACA	GRCh38
NC_000015.9:g.35083508_35083509insAACA , CM000677.1:g.35083508_35083509insAACA	GRCh37
NC_000015.8:g.32870800_32870801insAACA	NCBI36
NG_007553.1:g.9419_9420insTGTT , LRG_388:g.9419_9420insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1696_1697insTGTT (ACTC1)
ENST00000290378.6:c.809-13_809-12insTGTT (ACTC1) MANE Select	ENSP00000290378.4:n.809-13_809-12insTGTT
ENST00000647798.1:n.903-13_903-12insTGTT (ACTC1)
ENST00000650163.1:n.889-13_889-12insTGTT (ACTC1)
ENST00000290378.4:c.809-13_809-12insTGTT (ACTC1)	ENSP00000290378.4:n.809-13_809-12insTGTT
ENST00000557860.1:n.499-13_499-12insTGTT (ACTC1)
NM_005159.4:c.809-13_809-12insTGTT , LRG_388t1:c.809-13_809-12insTGTT (ACTC1)	NP_005150.1:n.809-13_809-12insTGTT
NR_120329.1:n.299+13876_299+13877insAACA (GJD2-DT)
NM_005159.5:c.809-13_809-12insTGTT (ACTC1) MANE Select	NP_005150.1:n.809-13_809-12insTGTT