Canonical Allele Identifier: CA563059423

Gene: PITX1

Linked Data

• dbSNP Id: rs1561470478
• gnomAD v2: 5-134364435-TCCGGCCG-T
• gnomAD v4: 5-135028745-TCCGGCCG-T
• MyVariant Identifiers: chr5:g.134364436_134364442del (hg19) ; chr5:g.135028746_135028752del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028752_135028758del , CM000667.2:g.135028752_135028758del	GRCh38
NC_000005.9:g.134364442_134364448del , CM000667.1:g.134364442_134364448del	GRCh37
NC_000005.8:g.134392341_134392347del	NCBI36
NG_012114.1:g.10523_10529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*27_*33del MANE Select	ENSP00000265340.6:n.*27_*33del
ENST00000265340.11:c.*27_*33del	ENSP00000265340.6:n.*27_*33del
ENST00000506438.5:c.*27_*33del	ENSP00000427542.1:n.*27_*33del
NM_002653.4:c.*27_*33del	NP_002644.4:n.*27_*33del
NM_002653.5:c.*27_*33del MANE Select	NP_002644.4:n.*27_*33del