Canonical Allele Identifier: CA10588794

Gene: AMER1

Linked Data

• ClinVar Variation Id: 265617
• ClinVar RCV Id: RCV000255128
• dbSNP Id: rs886039672
• MyVariant Identifiers: chrX:g.63411908_63411924del (hg19) ; chrX:g.64192028_64192044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192034_64192050del , CM000685.2:g.64192034_64192050del	GRCh38
NC_000023.10:g.63411914_63411930del , CM000685.1:g.63411914_63411930del	GRCh37
NC_000023.9:g.63328639_63328655del	NCBI36
NG_021345.1:g.18701_18717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.1243_1259del MANE Select	ENSP00000364003.4:p.Met415TyrfsTer20
ENST00000330258.3:c.1243_1259del	ENSP00000329117.3:p.Met415TyrfsTer20
ENST00000374869.7:c.1243_1259del	ENSP00000364003.3:p.Met415TyrfsTer20
NM_152424.3:c.1243_1259del	NP_689637.3:p.Met415TyrfsTer20
XM_011530858.1:c.1243_1259del	XP_011529160.1:p.Met415TyrfsTer20
NM_152424.4:c.1243_1259del MANE Select	NP_689637.3:p.Met415TyrfsTer20