Canonical Allele Identifier: CA567149896

Gene: PEX6

Linked Data

• dbSNP Id: rs1427587084
• gnomAD v2: 6-42937603-AC-A
• MyVariant Identifiers: chr6:g.42937604del (hg19) ; chr6:g.42969866del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969868del , CM000668.2:g.42969868del	GRCh38
NC_000006.11:g.42937606del , CM000668.1:g.42937606del	GRCh37
NC_000006.10:g.43045584del	NCBI36
NG_008370.1:g.14378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1233+19del MANE Select	ENSP00000303511.8:n.1233+19del
ENST00000244546.4:c.1233+19del	ENSP00000244546.4:n.1233+19del
ENST00000304611.12:c.1233+19del	ENSP00000303511.8:n.1233+19del
NM_000287.3:c.1233+19del	NP_000278.3:n.1233+19del
NM_001316313.1:c.969+19del	NP_001303242.1:n.969+19del
NR_133009.1:n.1326+19del
XM_011514661.1:c.1149+19del	XP_011512963.1:n.1149+19del
XR_926246.1:n.1326+19del
XM_011514661.2:c.1149+19del	XP_011512963.1:n.1149+19del
XR_001743466.2:n.2307+19del
NM_000287.4:c.1233+19del MANE Select	NP_000278.3:n.1233+19del
NM_001316313.2:c.969+19del	NP_001303242.1:n.969+19del
NR_133009.2:n.1264+19del