Canonical Allele Identifier: CA973664886

Gene: CACNA1H

Linked Data

• gnomAD v3: 16-1195157-GGGGGCGGGGCAAGGTTCAAGGTGGGGCGTGGAGTGGGTCAGGGTCGGGGATCAGGGCGAGGTTCACGGCGGGGCGCGAGGTGGGGCTGGGGGTGGGGCAGGGCGAGAGGCGAGGTTCAAGGCGAGGCAGGGCTCAGTTCCTGGGGCTCAGGGCGGGGCA-G
• gnomAD v4: 16-1195157-GGGGGCGGGGCAAGGTTCAAGGTGGGGCGTGGAGTGGGTCAGGGTCGGGGATCAGGGCGAGGTTCACGGCGGGGCGCGAGGTGGGGCTGGGGGTGGGGCAGGGCGAGAGGCGAGGTTCAAGGCGAGGCAGGGCTCAGTTCCTGGGGCTCAGGGCGGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1195168_1195326del , CM000678.2:g.1195168_1195326del	GRCh38
NC_000016.9:g.1245168_1245326del , CM000678.1:g.1245168_1245326del	GRCh37
NC_000016.8:g.1185169_1185327del	NCBI36
NG_012647.1:g.46928_47086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562079.6:c.411+85_412-106del	ENSP00000454581.2:n.411+85_412-106del
ENST00000564231.6:c.411+85_412-106del	ENSP00000457555.2:n.411+85_412-106del
ENST00000565831.7:c.411+85_412-106del	ENSP00000455840.1:n.411+85_412-106del
ENST00000569107.6:c.411+85_412-106del	ENSP00000454990.2:n.411+85_412-106del
ENST00000621827.2:c.411+85_412-106del	ENSP00000518766.1:n.411+85_412-106del
ENST00000637236.3:c.411+85_412-106del	ENSP00000492650.2:n.411+85_412-106del
ENST00000711438.1:c.411+85_412-145del	ENSP00000518754.1:n.411+85_412-145del
ENST00000711442.1:c.411+85_412-106del	ENSP00000518758.1:n.411+85_412-106del
ENST00000711443.1:n.69-5088_69-4930del
ENST00000711447.1:c.36-5088_36-4930del	ENSP00000518759.1:n.36-5088_36-4930del
ENST00000711448.1:c.411+85_412-106del	ENSP00000518760.1:n.411+85_412-106del
ENST00000711449.1:c.411+85_412-106del	ENSP00000518761.1:n.411+85_412-106del
ENST00000711450.1:c.411+85_412-106del	ENSP00000518762.1:n.411+85_412-106del
ENST00000711451.1:c.411+85_412-106del	ENSP00000518763.1:n.411+85_412-106del
ENST00000711452.1:c.411+85_412-106del	ENSP00000518764.1:n.411+85_412-106del
ENST00000711453.1:c.411+85_412-106del	ENSP00000518765.1:n.411+85_412-106del
ENST00000711455.1:c.411+85_412-106del	ENSP00000518768.1:n.411+85_412-106del
ENST00000711456.1:c.411+85_412-106del	ENSP00000518769.1:n.411+85_412-106del
ENST00000711481.1:c.559-3447_559-3289del	ENSP00000518770.1:n.559-3447_559-3289del
ENST00000711482.1:c.411+85_412-106del	ENSP00000518771.1:n.411+85_412-106del
ENST00000711483.1:c.411+85_412-106del	ENSP00000518772.1:n.411+85_412-106del
ENST00000711484.1:c.411+85_412-106del	ENSP00000518773.1:n.411+85_412-106del
ENST00000711485.1:c.411+85_412-106del	ENSP00000518774.1:n.411+85_412-106del
ENST00000711486.1:c.411+85_412-106del	ENSP00000518775.1:n.411+85_412-106del
ENST00000711487.1:c.411+85_412-106del	ENSP00000518776.1:n.411+85_412-106del
ENST00000711488.1:c.411+85_412-106del	ENSP00000518777.1:n.411+85_412-106del
ENST00000711493.1:c.411+85_412-106del	ENSP00000518778.1:n.411+85_412-106del
ENST00000348261.11:c.411+85_412-106del MANE Select	ENSP00000334198.7:n.411+85_412-106del
ENST00000565831.6:c.411+85_412-106del	ENSP00000455840.1:n.411+85_412-106del
ENST00000638323.1:c.411+85_412-145del	ENSP00000492267.1:n.411+85_412-145del
ENST00000639478.1:c.411+85_412-106del	ENSP00000491945.1:n.411+85_412-106del
ENST00000640028.1:c.411+85_412-106del	ENSP00000491488.1:n.411+85_412-106del
ENST00000348261.9:c.411+85_412-106del	ENSP00000334198.7:n.411+85_412-106del
ENST00000358590.8:c.411+85_412-106del	ENSP00000351401.4:n.411+85_412-106del
ENST00000564954.1:n.55+85_56-106del
ENST00000565831.5:c.411+85_412-106del	ENSP00000455840.1:n.411+85_412-106del
NM_001005407.1:c.411+85_412-106del	NP_001005407.1:n.411+85_412-106del
NM_021098.2:c.411+85_412-106del	NP_066921.2:n.411+85_412-106del
XM_005255652.3:c.411+85_412-106del	XP_005255709.1:n.411+85_412-106del
XM_006720963.2:c.411+85_412-106del	XP_006721026.1:n.411+85_412-106del
XM_006720964.2:c.411+85_412-106del	XP_006721027.1:n.411+85_412-106del
XM_006720965.2:c.411+85_412-106del	XP_006721028.1:n.411+85_412-106del
XM_006720967.2:c.411+85_412-106del	XP_006721030.1:n.411+85_412-106del
XM_006720968.2:c.411+85_412-106del	XP_006721031.1:n.411+85_412-106del
XM_006720969.2:c.411+85_412-106del	XP_006721032.1:n.411+85_412-106del
XM_011522726.1:c.411+85_412-106del	XP_011521028.1:n.411+85_412-106del
XM_011522727.1:c.411+85_412-106del	XP_011521029.1:n.411+85_412-106del
XR_932960.1:n.513+85_514-106del
XM_005255652.4:c.411+85_412-106del	XP_005255709.1:n.411+85_412-106del
XM_006720963.3:c.411+85_412-106del	XP_006721026.1:n.411+85_412-106del
XM_006720964.3:c.411+85_412-106del	XP_006721027.1:n.411+85_412-106del
XM_006720965.3:c.411+85_412-106del	XP_006721028.1:n.411+85_412-106del
XM_006720967.3:c.411+85_412-106del	XP_006721030.1:n.411+85_412-106del
XM_006720968.3:c.411+85_412-106del	XP_006721031.1:n.411+85_412-106del
XM_011522727.3:c.411+85_412-106del	XP_011521029.1:n.411+85_412-106del
XM_017023819.1:c.411+85_412-145del	XP_016879308.1:n.411+85_412-145del
XM_017023820.1:c.411+85_412-106del	XP_016879309.1:n.411+85_412-106del
XM_017023821.1:c.411+85_412-106del	XP_016879310.1:n.411+85_412-106del
XR_002957850.1:n.509+85_510-106del
NM_021098.3:c.411+85_412-106del MANE Select	NP_066921.2:n.411+85_412-106del
NM_001005407.2:c.411+85_412-106del	NP_001005407.1:n.411+85_412-106del