Canonical Allele Identifier: CA794914303
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1237418191
gnomAD v3: 4-41745984-T-TGCC
gnomAD v4: 4-41745984-T-TGCC
MyVariant Identifiers: chr4:g.41748001_41748002insGCC (hg19) chr4:g.41745984_41745985insGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745987_41745989dup , CM000666.2:g.41745987_41745989dup GRCh38
NC_000004.11:g.41748004_41748006dup , CM000666.1:g.41748004_41748006dup GRCh37
NC_000004.10:g.41442761_41442763dup NCBI36
NG_008243.1:g.7984_7986dup , LRG_513:g.7984_7986dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.765_767dup MANE Select ENSP00000226382.2:p.Ala256_Ala257insAla
ENST00000226382.3:c.765_767dup ENSP00000226382.2:p.Ala256_Ala257insAla
NM_003924.3:c.765_767dup , LRG_513t1:c.765_767dup NP_003915.2:p.Ala256_Ala257insAla
NM_003924.4:c.765_767dup MANE Select NP_003915.2:p.Ala256_Ala257insAla
Search 100 bp 5'
Search 100 bp 3'