Canonical Allele Identifier: CA559293951
Gene: AMACR HGNC NCBI
C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1261208412
gnomAD v2: 5-34007637-CAG-C
gnomAD v3: 5-34007532-CAG-C
gnomAD v4: 5-34007532-CAG-C
MyVariant Identifiers: chr5:g.34007638_34007639del (hg19) chr5:g.34007533_34007534del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34007537_34007538del , CM000667.2:g.34007537_34007538del GRCh38
NC_000005.9:g.34007642_34007643del , CM000667.1:g.34007642_34007643del GRCh37
NC_000005.8:g.34043399_34043400del NCBI36
NG_016211.1:g.5582_5583del

Transcript Alleles

HGVS Amino-acid Change
ENST00000335606.11:c.247+239_247+240del (AMACR) MANE Select ENSP00000334424.6:n.247+239_247+240del
ENST00000335606.10:c.247+239_247+240del (AMACR) ENSP00000334424.6:n.247+239_247+240del
ENST00000382068.3:c.247+239_247+240del (AMACR) ENSP00000477108.1:n.247+239_247+240del
ENST00000382072.6:c.247+239_247+240del (AMACR) ENSP00000371504.2:n.247+239_247+240del
ENST00000382079.3:c.690-1635_690-1634del (C1QTNF3-AMACR) ENSP00000371511.3:n.690-1635_690-1634del
ENST00000382085.7:c.247+239_247+240del (AMACR) ENSP00000371517.3:n.247+239_247+240del
ENST00000426255.6:c.247+239_247+240del (AMACR) ENSP00000476965.1:n.247+239_247+240del
ENST00000502637.5:c.247+239_247+240del (AMACR) ENSP00000424351.1:n.247+239_247+240del
ENST00000506639.5:c.247+239_247+240del (AMACR) ENSP00000427227.1:n.247+239_247+240del
ENST00000512079.5:c.247+239_247+240del (AMACR) ENSP00000477411.1:n.247+239_247+240del
ENST00000514195.1:n.259+239_259+240del (AMACR)
NM_001167595.1:c.247+239_247+240del (AMACR) NP_001161067.1:n.247+239_247+240del
NM_014324.5:c.247+239_247+240del (AMACR) NP_055139.4:n.247+239_247+240del
NM_203382.2:c.247+239_247+240del (AMACR) NP_976316.1:n.247+239_247+240del
NR_037951.1:n.765-1635_765-1634del (C1QTNF3-AMACR)
NM_014324.6:c.247+239_247+240del (AMACR) MANE Select NP_055139.4:n.247+239_247+240del
NM_001167595.2:c.247+239_247+240del (AMACR) NP_001161067.1:n.247+239_247+240del
NM_203382.3:c.247+239_247+240del (AMACR) NP_976316.1:n.247+239_247+240del
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