Canonical Allele Identifier: CA562836063

Gene: PITX1

Linked Data

• dbSNP Id: rs1491219576
• gnomAD v2: 5-134364238-GCT-G
• gnomAD v3: 5-135028548-GCT-G
• gnomAD v4: 5-135028548-GCT-G
• MyVariant Identifiers: chr5:g.134364239_134364240del (hg19) ; chr5:g.134364239_134364241delinsT (hg19) ; chr5:g.135028549_135028550del (hg38) ; chr5:g.135028549_135028551delinsT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028549_135028550del , CM000667.2:g.135028549_135028550del	GRCh38
NC_000005.9:g.134364239_134364240del , CM000667.1:g.134364239_134364240del	GRCh37
NC_000005.8:g.134392138_134392139del	NCBI36
NG_012114.1:g.10725_10726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*229_*230del MANE Select	ENSP00000265340.6:n.*229_*230del
ENST00000265340.11:c.*229_*230del	ENSP00000265340.6:n.*229_*230del
NM_002653.4:c.*229_*230del	NP_002644.4:n.*229_*230del
NM_002653.5:c.*229_*230del MANE Select	NP_002644.4:n.*229_*230del