Canonical Allele Identifier: CA257898313

Gene: TGM1

Linked Data

• dbSNP Id: rs911235238
• gnomAD v3: 14-24258890-CTCCCTCCTTTCCCTTA-C
• gnomAD v4: 14-24258890-CTCCCTCCTTTCCCTTA-C
• MyVariant Identifiers: chr14:g.24728097_24728112del (hg19) ; chr14:g.24258891_24258906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24258891_24258906del , CM000676.2:g.24258891_24258906del	GRCh38
NC_000014.8:g.24728097_24728112del , CM000676.1:g.24728097_24728112del	GRCh37
NC_000014.7:g.23797937_23797952del	NCBI36
NG_007150.1:g.9261_9276del
NG_007150.2:g.9261_9276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1159+169_1159+184del MANE Select	ENSP00000206765.6:n.1159+169_1159+184del
ENST00000206765.10:c.1159+169_1159+184del	ENSP00000206765.6:n.1159+169_1159+184del
ENST00000544573.5:c.-28-518_-28-503del	ENSP00000439446.1:n.-28-518_-28-503del
ENST00000559136.1:c.232+169_232+184del	ENSP00000453337.1:n.232+169_232+184del
NM_000359.2:c.1159+169_1159+184del	NP_000350.1:n.1159+169_1159+184del
NM_000359.3:c.1159+169_1159+184del MANE Select	NP_000350.1:n.1159+169_1159+184del