Canonical Allele Identifier: CA562836040
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1447543097
gnomAD v2: 5-134364131-CGGAGTGGGCCTCCGG-C
gnomAD v3: 5-135028441-CGGAGTGGGCCTCCGG-C
gnomAD v4: 5-135028441-CGGAGTGGGCCTCCGG-C
MyVariant Identifiers: chr5:g.134364132_134364146del (hg19) chr5:g.135028442_135028456del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028444_135028458del , CM000667.2:g.135028444_135028458del GRCh38
NC_000005.9:g.134364134_134364148del , CM000667.1:g.134364134_134364148del GRCh37
NC_000005.8:g.134392033_134392047del NCBI36
NG_012114.1:g.10819_10833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*323_*337del MANE Select ENSP00000265340.6:n.*323_*337del
ENST00000265340.11:c.*323_*337del ENSP00000265340.6:n.*323_*337del
NM_002653.4:c.*323_*337del NP_002644.4:n.*323_*337del
NM_002653.5:c.*323_*337del MANE Select NP_002644.4:n.*323_*337del
Search 100 bp 5'
Search 100 bp 3'