Canonical Allele Identifier: CA563059442

Gene: PITX1

Linked Data

• dbSNP Id: rs1489077037
• gnomAD v2: 5-134367099-C-CGCT
• gnomAD v4: 5-135031409-C-CGCT
• MyVariant Identifiers: chr5:g.134367099_134367100insGCT (hg19) ; chr5:g.135031409_135031410insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031413_135031415dup , CM000667.2:g.135031413_135031415dup	GRCh38
NC_000005.9:g.134367103_134367105dup , CM000667.1:g.134367103_134367105dup	GRCh37
NC_000005.8:g.134395002_134395004dup	NCBI36
NG_012114.1:g.7863_7865dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.266_268dup MANE Select	ENSP00000265340.6:p.Gln89_Arg90insGln
ENST00000265340.11:c.266_268dup	ENSP00000265340.6:p.Gln89_Arg90insGln
ENST00000502676.1:c.266_268dup	ENSP00000423624.1:p.Gln89_Arg90insGln
ENST00000503586.1:c.388_390dup
ENST00000504936.1:n.599_601dup
ENST00000506438.5:c.266_268dup	ENSP00000427542.1:p.Gln89_Arg90insGln
ENST00000507253.5:c.266_268dup	ENSP00000422908.1:p.Gln89_Arg90insGln
NM_002653.4:c.266_268dup	NP_002644.4:p.Gln89_Arg90insGln
NM_002653.5:c.266_268dup MANE Select	NP_002644.4:p.Gln89_Arg90insGln