Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53813288_53813289delinsCA , CM000665.2:g.53813288_53813289delinsCA	GRCh38
NC_000003.11:g.53847315_53847316delinsCA , CM000665.1:g.53847315_53847316delinsCA	GRCh37
NC_000003.10:g.53822355_53822356delinsCA	NCBI36
NG_032999.1:g.323240_323241delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000636581.2:n.3757_3758delinsCA (CACNA1D)
ENST00000636633.2:n.5367_5368delinsCA (CACNA1D)
ENST00000636999.2:n.3803_3804delinsCA (CACNA1D)
ENST00000288139.11:c.1882_1883delinsCA (CACNA1D) MANE Plus Clinical	ENSP00000288139.3:n.1882_1883delinsCA
ENST00000315251.11:c.4488_4489delinsTG (CHDH) MANE Select	ENSP00000319851.5:n.4488_4489delinsTG
ENST00000350061.11:c.1882_1883delinsCA (CACNA1D) MANE Select	ENSP00000288133.5:n.1882_1883delinsCA
ENST00000636999.1:n.3795_3796delinsCA (CACNA1D)
ENST00000288139.8:c.1882_1883delinsCA (CACNA1D)	ENSP00000288139.3:n.1882_1883delinsCA
ENST00000315251.10:c.4488_4489delinsTG (CHDH)	ENSP00000319851.5:n.4488_4489delinsTG
XM_006713250.4:c.4488_4489delinsTG (CHDH)	XP_006713313.1:n.4488_4489delinsTG
XM_006713251.4:c.4488_4489delinsTG (CHDH)	XP_006713314.1:n.4488_4489delinsTG
XM_006713252.4:c.4900_4901delinsTG (CHDH)	XP_006713315.1:n.4900_4901delinsTG
XM_011533938.3:c.4488_4489delinsTG (CHDH)	XP_011532240.1:n.4488_4489delinsTG
XM_011533939.3:c.4488_4489delinsTG (CHDH)	XP_011532241.1:n.4488_4489delinsTG
XM_017006797.2:c.4488_4489delinsTG (CHDH)	XP_016862286.1:n.4488_4489delinsTG
XM_017006798.2:c.4488_4489delinsTG (CHDH)	XP_016862287.1:n.4488_4489delinsTG
XM_017006799.2:c.4900_4901delinsTG (CHDH)	XP_016862288.1:n.4900_4901delinsTG
XR_002959545.1:n.4351-234_4351-233delinsTG (CHDH)
NM_001128840.3:c.1882_1883delinsCA (CACNA1D) MANE Select	NP_001122312.1:n.1882_1883delinsCA
NM_018397.5:c.4488_4489delinsTG (CHDH) MANE Select	NP_060867.2:n.4488_4489delinsTG
NM_000720.4:c.1882_1883delinsCA (CACNA1D) MANE Plus Clinical	NP_000711.1:n.1882_1883delinsCA
NM_001128839.3:c.1882_1883delinsCA (CACNA1D)	NP_001122311.1:n.1882_1883delinsCA

HGVS	Amino-acid change
ENST00000636581.2:n.3757_3758delinsCA (CACNA1D)
ENST00000636633.2:n.5367_5368delinsCA (CACNA1D)
ENST00000636999.2:n.3803_3804delinsCA (CACNA1D)
ENST00000288139.11:c.1882_1883delinsCA (CACNA1D) MANE Plus Clinical	ENSP00000288139.3:n.1882_1883delinsCA
ENST00000315251.11:c.4488_4489delinsTG (CHDH) MANE Select	ENSP00000319851.5:n.4488_4489delinsTG
ENST00000350061.11:c.1882_1883delinsCA (CACNA1D) MANE Select	ENSP00000288133.5:n.1882_1883delinsCA
ENST00000636999.1:n.3795_3796delinsCA (CACNA1D)
ENST00000288139.8:c.1882_1883delinsCA (CACNA1D)	ENSP00000288139.3:n.1882_1883delinsCA
ENST00000315251.10:c.4488_4489delinsTG (CHDH)	ENSP00000319851.5:n.4488_4489delinsTG
XM_006713250.4:c.4488_4489delinsTG (CHDH)	XP_006713313.1:n.4488_4489delinsTG
XM_006713251.4:c.4488_4489delinsTG (CHDH)	XP_006713314.1:n.4488_4489delinsTG
XM_006713252.4:c.4900_4901delinsTG (CHDH)	XP_006713315.1:n.4900_4901delinsTG
XM_011533938.3:c.4488_4489delinsTG (CHDH)	XP_011532240.1:n.4488_4489delinsTG
XM_011533939.3:c.4488_4489delinsTG (CHDH)	XP_011532241.1:n.4488_4489delinsTG
XM_017006797.2:c.4488_4489delinsTG (CHDH)	XP_016862286.1:n.4488_4489delinsTG
XM_017006798.2:c.4488_4489delinsTG (CHDH)	XP_016862287.1:n.4488_4489delinsTG
XM_017006799.2:c.4900_4901delinsTG (CHDH)	XP_016862288.1:n.4900_4901delinsTG
XR_002959545.1:n.4351-234_4351-233delinsTG (CHDH)
NM_001128840.3:c.1882_1883delinsCA (CACNA1D) MANE Select	NP_001122312.1:n.1882_1883delinsCA
NM_018397.5:c.4488_4489delinsTG (CHDH) MANE Select	NP_060867.2:n.4488_4489delinsTG
NM_000720.4:c.1882_1883delinsCA (CACNA1D) MANE Plus Clinical	NP_000711.1:n.1882_1883delinsCA
NM_001128839.3:c.1882_1883delinsCA (CACNA1D)	NP_001122311.1:n.1882_1883delinsCA