Canonical Allele Identifier: CA538477475

Gene: STAT1

Linked Data

• dbSNP Id: rs1365172039
• gnomAD v2: 2-191880412-CTT-C
• gnomAD v3: 2-191015686-CTT-C
• gnomAD v4: 2-191015686-CTT-C
• MyVariant Identifiers: chr2:g.191880413_191880414del (hg19) ; chr2:g.191015687_191015688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.191015688_191015689del , CM000664.2:g.191015688_191015689del	GRCh38
NC_000002.11:g.191880414_191880415del , CM000664.1:g.191880414_191880415del	GRCh37
NC_000002.10:g.191588659_191588660del	NCBI36
NG_008294.1:g.3563_3564del , LRG_111:g.3563_3564del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432058.1:c.-155-2010_-155-2009del	ENSP00000416019.1:n.-155-2010_-155-2009del
ENST00000454414.5:c.-2+4512_-2+4513del	ENSP00000411398.1:n.-2+4512_-2+4513del