Canonical Allele Identifier: CA505174015

Gene: TICAM1

Linked Data

• dbSNP Id: rs762126373
• gnomAD v2: 19-4816464-TG-T
• gnomAD v3: 19-4816452-TG-T
• gnomAD v4: 19-4816452-TG-T
• COSMIC: COSM1394197
• MyVariant Identifiers: chr19:g.4816465del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816459del , CM000681.2:g.4816459del	GRCh38
NC_000019.9:g.4816471del , CM000681.1:g.4816471del	GRCh37
NC_000019.8:g.4767471del	NCBI36
NG_031998.1:g.20290del , LRG_358:g.20290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1925del MANE Select	ENSP00000248244.4:p.Pro642HisfsTer?
ENST00000248244.5:c.1925del	ENSP00000248244.4:p.Pro642HisfsTer?
ENST00000621756.1:c.1479+29del	ENSP00000479467.1:n.1479+29del
NM_182919.3:c.1925del , LRG_358t1:c.1925del	NP_891549.1:p.Pro642HisfsTer?
NM_001385678.1:c.1883del	NP_001372607.1:p.Pro628HisfsTer?
NM_001385679.1:c.1790del	NP_001372608.1:p.Pro597HisfsTer?
NM_001385680.1:c.1283del	NP_001372609.1:p.Pro428HisfsTer?
NM_182919.4:c.1925del MANE Select	NP_891549.1:p.Pro642HisfsTer?