Canonical Allele Identifier: CA908255372

Gene: CACNA1D CHDH

Linked Data

• dbSNP Id: rs1222202529
• gnomAD v3: 3-53813305-T-TAA
• gnomAD v4: 3-53813305-T-TAA
• MyVariant Identifiers: chr3:g.53847332_53847333insAA (hg19) ; chr3:g.53813305_53813306insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53813308_53813309dup , CM000665.2:g.53813308_53813309dup	GRCh38
NC_000003.11:g.53847335_53847336dup , CM000665.1:g.53847335_53847336dup	GRCh37
NC_000003.10:g.53822375_53822376dup	NCBI36
NG_032999.1:g.323260_323261dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636581.2:n.3777_3778dup (CACNA1D)
ENST00000636633.2:n.5387_5388dup (CACNA1D)
ENST00000636999.2:n.3823_3824dup (CACNA1D)
ENST00000288139.11:c.*1902_*1903dup (CACNA1D) MANE Plus Clinical	ENSP00000288139.3:n.*1902_*1903dup
ENST00000315251.11:c.*4470_*4471dup (CHDH) MANE Select	ENSP00000319851.5:n.*4470_*4471dup
ENST00000350061.11:c.*1902_*1903dup (CACNA1D) MANE Select	ENSP00000288133.5:n.*1902_*1903dup
ENST00000636999.1:n.3815_3816dup (CACNA1D)
ENST00000288139.8:c.*1902_*1903dup (CACNA1D)	ENSP00000288139.3:n.*1902_*1903dup
ENST00000315251.10:c.*4470_*4471dup (CHDH)	ENSP00000319851.5:n.*4470_*4471dup
XM_006713250.4:c.*4470_*4471dup (CHDH)	XP_006713313.1:n.*4470_*4471dup
XM_006713251.4:c.*4470_*4471dup (CHDH)	XP_006713314.1:n.*4470_*4471dup
XM_006713252.4:c.*4882_*4883dup (CHDH)	XP_006713315.1:n.*4882_*4883dup
XM_011533938.3:c.*4470_*4471dup (CHDH)	XP_011532240.1:n.*4470_*4471dup
XM_011533939.3:c.*4470_*4471dup (CHDH)	XP_011532241.1:n.*4470_*4471dup
XM_017006797.2:c.*4470_*4471dup (CHDH)	XP_016862286.1:n.*4470_*4471dup
XM_017006798.2:c.*4470_*4471dup (CHDH)	XP_016862287.1:n.*4470_*4471dup
XM_017006799.2:c.*4882_*4883dup (CHDH)	XP_016862288.1:n.*4882_*4883dup
XR_002959545.1:n.4351-252_4351-251dup (CHDH)
NM_001128840.3:c.*1902_*1903dup (CACNA1D) MANE Select	NP_001122312.1:n.*1902_*1903dup
NM_018397.5:c.*4470_*4471dup (CHDH) MANE Select	NP_060867.2:n.*4470_*4471dup
NM_000720.4:c.*1902_*1903dup (CACNA1D) MANE Plus Clinical	NP_000711.1:n.*1902_*1903dup
NM_001128839.3:c.*1902_*1903dup (CACNA1D)	NP_001122311.1:n.*1902_*1903dup