Canonical Allele Identifier: CA2673481984

Gene: C1QTNF3-AMACR AMACR

Linked Data

• gnomAD v4: 5-34008097-ATCCCCGGCGCCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34008098_34008110del , CM000667.2:g.34008098_34008110del	GRCh38
NC_000005.9:g.34008203_34008215del , CM000667.1:g.34008203_34008215del	GRCh37
NC_000005.8:g.34043960_34043972del	NCBI36
NG_016211.1:g.5006_5018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382079.3:c.690-2211_690-2199del (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2211_690-2199del
NM_001167595.1:c.-91_-79del (AMACR)	NP_001161067.1:n.-91_-79del
NM_014324.5:c.-91_-79del (AMACR)	NP_055139.4:n.-91_-79del
NM_203382.2:c.-91_-79del (AMACR)	NP_976316.1:n.-91_-79del
NR_037951.1:n.765-2211_765-2199del (C1QTNF3-AMACR)