Canonical Allele Identifier: CA9105011

Gene: TICAM1

Linked Data

• dbSNP Id: rs768825247
• ExAC: 19:4816371 GCT / G
• gnomAD v2: 19-4816371-GCT-G
• gnomAD v4: 19-4816359-GCT-G
• MyVariant Identifiers: chr19:g.4816372_4816373del (hg19) ; chr19:g.4816360_4816361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816362_4816363del , CM000681.2:g.4816362_4816363del	GRCh38
NC_000019.9:g.4816374_4816375del , CM000681.1:g.4816374_4816375del	GRCh37
NC_000019.8:g.4767374_4767375del	NCBI36
NG_031998.1:g.20382_20383del , LRG_358:g.20382_20383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2017_2018del MANE Select	ENSP00000248244.4:p.Ser673ProfsTer?
ENST00000248244.5:c.2017_2018del	ENSP00000248244.4:p.Ser673ProfsTer?
ENST00000621756.1:c.1519_1520del	ENSP00000479467.1:p.Ser507ProfsTer?
NM_182919.3:c.2017_2018del , LRG_358t1:c.2017_2018del	NP_891549.1:p.Ser673ProfsTer?
NM_001385678.1:c.1975_1976del	NP_001372607.1:p.Ser659ProfsTer?
NM_001385679.1:c.1882_1883del	NP_001372608.1:p.Ser628ProfsTer?
NM_001385680.1:c.1375_1376del	NP_001372609.1:p.Ser459ProfsTer?
NM_182919.4:c.2017_2018del MANE Select	NP_891549.1:p.Ser673ProfsTer?