Canonical Allele Identifier: CA116872500

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs912307120
• gnomAD v2: 5-34007835-CCG-C
• gnomAD v4: 5-34007730-CCG-C
• MyVariant Identifiers: chr5:g.34007836_34007837del (hg19) ; chr5:g.34007731_34007732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34007733_34007734del , CM000667.2:g.34007733_34007734del	GRCh38
NC_000005.9:g.34007838_34007839del , CM000667.1:g.34007838_34007839del	GRCh37
NC_000005.8:g.34043595_34043596del	NCBI36
NG_016211.1:g.5384_5385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.247+41_247+42del (AMACR) MANE Select	ENSP00000334424.6:n.247+41_247+42del
ENST00000335606.10:c.247+41_247+42del (AMACR)	ENSP00000334424.6:n.247+41_247+42del
ENST00000382068.3:c.247+41_247+42del (AMACR)	ENSP00000477108.1:n.247+41_247+42del
ENST00000382072.6:c.247+41_247+42del (AMACR)	ENSP00000371504.2:n.247+41_247+42del
ENST00000382079.3:c.690-1833_690-1832del (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-1833_690-1832del
ENST00000382085.7:c.247+41_247+42del (AMACR)	ENSP00000371517.3:n.247+41_247+42del
ENST00000426255.6:c.247+41_247+42del (AMACR)	ENSP00000476965.1:n.247+41_247+42del
ENST00000502637.5:c.247+41_247+42del (AMACR)	ENSP00000424351.1:n.247+41_247+42del
ENST00000506639.5:c.247+41_247+42del (AMACR)	ENSP00000427227.1:n.247+41_247+42del
ENST00000512079.5:c.247+41_247+42del (AMACR)	ENSP00000477411.1:n.247+41_247+42del
ENST00000514195.1:n.259+41_259+42del (AMACR)
NM_001167595.1:c.247+41_247+42del (AMACR)	NP_001161067.1:n.247+41_247+42del
NM_014324.5:c.247+41_247+42del (AMACR)	NP_055139.4:n.247+41_247+42del
NM_203382.2:c.247+41_247+42del (AMACR)	NP_976316.1:n.247+41_247+42del
NR_037951.1:n.765-1833_765-1832del (C1QTNF3-AMACR)
NM_014324.6:c.247+41_247+42del (AMACR) MANE Select	NP_055139.4:n.247+41_247+42del
NM_001167595.2:c.247+41_247+42del (AMACR)	NP_001161067.1:n.247+41_247+42del
NM_203382.3:c.247+41_247+42del (AMACR)	NP_976316.1:n.247+41_247+42del