Canonical Allele Identifier: CA1081831390

Gene: PITX1

Linked Data

• dbSNP Id: rs1752390702
• gnomAD v3: 5-135028565-TTTTTTTTTG-T
• gnomAD v4: 5-135028565-TTTTTTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028567_135028575del , CM000667.2:g.135028567_135028575del	GRCh38
NC_000005.9:g.134364257_134364265del , CM000667.1:g.134364257_134364265del	GRCh37
NC_000005.8:g.134392156_134392164del	NCBI36
NG_012114.1:g.10701_10709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*205_*213del MANE Select	ENSP00000265340.6:n.*205_*213del
ENST00000265340.11:c.*205_*213del	ENSP00000265340.6:n.*205_*213del
ENST00000506438.5:c.*205_*213del	ENSP00000427542.1:n.*205_*213del
NM_002653.4:c.*205_*213del	NP_002644.4:n.*205_*213del
NM_002653.5:c.*205_*213del MANE Select	NP_002644.4:n.*205_*213del