Canonical Allele Identifier: CA2822950383

Gene: AMMECR1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264460_110264461del , CM000685.2:g.110264460_110264461del	GRCh38
NC_000023.10:g.109507688_109507689del , CM000685.1:g.109507688_109507689del	GRCh37
NC_000023.9:g.109394344_109394345del	NCBI36
NG_016469.1:g.180775_180776del
NG_016469.2:g.180775_180776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.584+30_584+31del	ENSP00000509935.1:n.584+30_584+31del
ENST00000262844.10:c.584+30_584+31del MANE Select	ENSP00000262844.5:n.584+30_584+31del
ENST00000680410.1:n.551+30_551+31del
ENST00000262844.9:c.584+30_584+31del	ENSP00000262844.5:n.584+30_584+31del
ENST00000372057.1:c.215+30_215+31del	ENSP00000361127.1:n.215+30_215+31del
ENST00000372059.6:c.474-47827_474-47826del	ENSP00000361129.2:n.474-47827_474-47826del
ENST00000473662.1:n.284+30_284+31del
NM_001025580.1:c.474-47827_474-47826del	NP_001020751.1:n.474-47827_474-47826del
NM_001171689.1:c.215+30_215+31del	NP_001165160.1:n.215+30_215+31del
NM_015365.2:c.584+30_584+31del	NP_056180.1:n.584+30_584+31del
NM_015365.3:c.584+30_584+31del MANE Select	NP_056180.1:n.584+30_584+31del
NM_001025580.2:c.474-47827_474-47826del	NP_001020751.1:n.474-47827_474-47826del
NM_001171689.2:c.215+30_215+31del	NP_001165160.1:n.215+30_215+31del