Canonical Allele Identifier: CA9105147

Gene: TICAM1

Linked Data

• dbSNP Id: rs767884569
• ExAC: 19:4817006 AGTCGAAG / A
• gnomAD v2: 19-4817006-AGTCGAAG-A
• gnomAD v4: 19-4816994-AGTCGAAG-A
• MyVariant Identifiers: chr19:g.4817007_4817013del (hg19) ; chr19:g.4816995_4817001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816995_4817001del , CM000681.2:g.4816995_4817001del	GRCh38
NC_000019.9:g.4817007_4817013del , CM000681.1:g.4817007_4817013del	GRCh37
NC_000019.8:g.4768007_4768013del	NCBI36
NG_031998.1:g.19742_19748del , LRG_358:g.19742_19748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1377_1383del MANE Select	ENSP00000248244.4:p.Phe460ValfsTer3
ENST00000248244.5:c.1377_1383del	ENSP00000248244.4:p.Phe460ValfsTer3
ENST00000621756.1:c.960_966del	ENSP00000479467.1:p.Phe321ValfsTer3
NM_182919.3:c.1377_1383del , LRG_358t1:c.1377_1383del	NP_891549.1:p.Phe460ValfsTer3
NM_001385678.1:c.1335_1341del	NP_001372607.1:p.Phe446ValfsTer3
NM_001385679.1:c.1242_1248del	NP_001372608.1:p.Phe415ValfsTer3
NM_001385680.1:c.735_741del	NP_001372609.1:p.Phe246ValfsTer3
NM_182919.4:c.1377_1383del MANE Select	NP_891549.1:p.Phe460ValfsTer3