Canonical Allele Identifier: CA2586031834

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816586-C-CAAATGACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816587_4816595dup , CM000681.2:g.4816587_4816595dup	GRCh38
NC_000019.9:g.4816599_4816607dup , CM000681.1:g.4816599_4816607dup	GRCh37
NC_000019.8:g.4767599_4767607dup	NCBI36
NG_031998.1:g.20148_20156dup , LRG_358:g.20148_20156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1783_1791dup MANE Select	ENSP00000248244.4:p.Phe597_Gly598insMetSerPhe
ENST00000248244.5:c.1783_1791dup	ENSP00000248244.4:p.Phe597_Gly598insMetSerPhe
ENST00000621756.1:c.1366_1374dup	ENSP00000479467.1:p.Phe458_Gly459insMetSerPhe
NM_182919.3:c.1783_1791dup , LRG_358t1:c.1783_1791dup	NP_891549.1:p.Phe597_Gly598insMetSerPhe
NM_001385678.1:c.1741_1749dup	NP_001372607.1:p.Phe583_Gly584insMetSerPhe
NM_001385679.1:c.1648_1656dup	NP_001372608.1:p.Phe552_Gly553insMetSerPhe
NM_001385680.1:c.1141_1149dup	NP_001372609.1:p.Phe383_Gly384insMetSerPhe
NM_182919.4:c.1783_1791dup MANE Select	NP_891549.1:p.Phe597_Gly598insMetSerPhe