Canonical Allele Identifier: CA612959151
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1408095139
gnomAD v2: 14-24725486-CAA-C
gnomAD v3: 14-24256280-CAA-C
gnomAD v4: 14-24256280-CAA-C
MyVariant Identifiers: chr14:g.24725487_24725488del (hg19) chr14:g.24256281_24256282del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256282_24256283del , CM000676.2:g.24256282_24256283del GRCh38
NC_000014.8:g.24725488_24725489del , CM000676.1:g.24725488_24725489del GRCh37
NC_000014.7:g.23795328_23795329del NCBI36
NG_007150.1:g.11885_11886del
NG_007150.2:g.11885_11886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1403-205_1403-204del MANE Select ENSP00000206765.6:n.1403-205_1403-204del
ENST00000206765.10:c.1403-205_1403-204del ENSP00000206765.6:n.1403-205_1403-204del
ENST00000544573.5:c.77-205_77-204del ENSP00000439446.1:n.77-205_77-204del
ENST00000559136.1:c.476-205_476-204del ENSP00000453337.1:n.476-205_476-204del
NM_000359.2:c.1403-205_1403-204del NP_000350.1:n.1403-205_1403-204del
NM_000359.3:c.1403-205_1403-204del MANE Select NP_000350.1:n.1403-205_1403-204del
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