Canonical Allele Identifier: CA563059443

Gene: PITX1

Linked Data

• dbSNP Id: rs780678961
• gnomAD v2: 5-134367103-G-GCTT
• gnomAD v3: 5-135031413-G-GCTT
• gnomAD v4: 5-135031413-G-GCTT
• MyVariant Identifiers: chr5:g.134367106_134367107insCTT (hg19) ; chr5:g.135031416_135031417insCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031423_135031425dup , CM000667.2:g.135031423_135031425dup	GRCh38
NC_000005.9:g.134367113_134367115dup , CM000667.1:g.134367113_134367115dup	GRCh37
NC_000005.8:g.134395012_134395014dup	NCBI36
NG_012114.1:g.7859_7861dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.262_264dup MANE Select	ENSP00000265340.6:p.Lys88_Gln89insLys
ENST00000265340.11:c.262_264dup	ENSP00000265340.6:p.Lys88_Gln89insLys
ENST00000502676.1:c.262_264dup	ENSP00000423624.1:p.Lys88_Gln89insLys
ENST00000503586.1:c.384_386dup
ENST00000504936.1:n.595_597dup
ENST00000506438.5:c.262_264dup	ENSP00000427542.1:p.Lys88_Gln89insLys
ENST00000507253.5:c.262_264dup	ENSP00000422908.1:p.Lys88_Gln89insLys
NM_002653.4:c.262_264dup	NP_002644.4:p.Lys88_Gln89insLys
NM_002653.5:c.262_264dup MANE Select	NP_002644.4:p.Lys88_Gln89insLys