Canonical Allele Identifier: CA562836072

Gene: PITX1

Linked Data

• dbSNP Id: rs1466209938
• gnomAD v2: 5-134364262-TTG-T
• gnomAD v3: 5-135028572-TTG-T
• gnomAD v4: 5-135028572-TTG-T
• MyVariant Identifiers: chr5:g.134364263_134364264del (hg19) ; chr5:g.135028573_135028574del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028574_135028575del , CM000667.2:g.135028574_135028575del	GRCh38
NC_000005.9:g.134364264_134364265del , CM000667.1:g.134364264_134364265del	GRCh37
NC_000005.8:g.134392163_134392164del	NCBI36
NG_012114.1:g.10701_10702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*205_*206del MANE Select	ENSP00000265340.6:n.*205_*206del
ENST00000265340.11:c.*205_*206del	ENSP00000265340.6:n.*205_*206del
ENST00000506438.5:c.*205_*206del	ENSP00000427542.1:n.*205_*206del
NM_002653.4:c.*205_*206del	NP_002644.4:n.*205_*206del
NM_002653.5:c.*205_*206del MANE Select	NP_002644.4:n.*205_*206del