Canonical Allele Identifier: CA128010951

Gene: PITX1

Linked Data

• dbSNP Id: rs1007102989
• gnomAD v3: 5-135031233-AGCCCTCTGCGCGGGT-A
• gnomAD v4: 5-135031233-AGCCCTCTGCGCGGGT-A
• MyVariant Identifiers: chr5:g.134366924_134366938del (hg19) ; chr5:g.135031234_135031248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031239_135031253del , CM000667.2:g.135031239_135031253del	GRCh38
NC_000005.9:g.134366929_134366943del , CM000667.1:g.134366929_134366943del	GRCh37
NC_000005.8:g.134394828_134394842del	NCBI36
NG_012114.1:g.8027_8041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.402+28_402+42del MANE Select	ENSP00000265340.6:n.402+28_402+42del
ENST00000265340.11:c.402+28_402+42del	ENSP00000265340.6:n.402+28_402+42del
ENST00000503586.1:c.524+28_524+42del
ENST00000504936.1:n.735+28_735+42del
ENST00000506438.5:c.402+28_402+42del	ENSP00000427542.1:n.402+28_402+42del
NM_002653.4:c.402+28_402+42del	NP_002644.4:n.402+28_402+42del
NM_002653.5:c.402+28_402+42del MANE Select	NP_002644.4:n.402+28_402+42del