Canonical Allele Identifier: CA2579627415
Gene: AMER1 HGNC NCBI

Linked Data

gnomAD v4: X-64192092-CCTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192093_64192095del , CM000685.2:g.64192093_64192095del GRCh38
NC_000023.10:g.63411973_63411975del , CM000685.1:g.63411973_63411975del GRCh37
NC_000023.9:g.63328698_63328700del NCBI36
NG_021345.1:g.18650_18652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1192_1194del MANE Select ENSP00000364003.4:p.Lys398del
ENST00000330258.3:c.1192_1194del ENSP00000329117.3:p.Lys398del
ENST00000374869.7:c.1192_1194del ENSP00000364003.3:p.Lys398del
NM_152424.3:c.1192_1194del NP_689637.3:p.Lys398del
XM_011530858.1:c.1192_1194del XP_011529160.1:p.Lys398del
NM_152424.4:c.1192_1194del MANE Select NP_689637.3:p.Lys398del
Search 100 bp 5'
Search 100 bp 3'