Canonical Allele Identifier: CA551141169
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1280245943
gnomAD v2: 4-41748012-C-CTG
MyVariant Identifiers: chr4:g.41748012_41748013insTG (hg19) chr4:g.41745995_41745996insTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745995_41745996insTG , CM000666.2:g.41745995_41745996insTG GRCh38
NC_000004.11:g.41748012_41748013insTG , CM000666.1:g.41748012_41748013insTG GRCh37
NC_000004.10:g.41442769_41442770insTG NCBI36
NG_008243.1:g.7975_7976insCA , LRG_513:g.7975_7976insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.756_757insCA MANE Select ENSP00000226382.2:p.Ala253GlnfsTer?
ENST00000226382.3:c.756_757insCA ENSP00000226382.2:p.Ala253GlnfsTer?
NM_003924.3:c.756_757insCA , LRG_513t1:c.756_757insCA NP_003915.2:p.Ala253GlnfsTer?
NM_003924.4:c.756_757insCA MANE Select NP_003915.2:p.Ala253GlnfsTer?
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