Canonical Allele Identifier: CA2694459743

Gene: AMMECR1

Linked Data

• gnomAD v4: X-110264585-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264587del , CM000685.2:g.110264587del	GRCh38
NC_000023.10:g.109507815del , CM000685.1:g.109507815del	GRCh37
NC_000023.9:g.109394471del	NCBI36
NG_016469.1:g.180648del
NG_016469.2:g.180648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.487del	ENSP00000509935.1:p.Thr163HisfsTer14
ENST00000262844.10:c.487del MANE Select	ENSP00000262844.5:p.Thr163HisfsTer14
ENST00000680410.1:n.454del
ENST00000262844.9:c.487del	ENSP00000262844.5:p.Thr163HisfsTer14
ENST00000372057.1:c.118del	ENSP00000361127.1:p.Thr40HisfsTer14
ENST00000372059.6:c.474-47954del	ENSP00000361129.2:n.474-47954del
ENST00000473662.1:n.187del
NM_001025580.1:c.474-47954del	NP_001020751.1:n.474-47954del
NM_001171689.1:c.118del	NP_001165160.1:p.Thr40HisfsTer14
NM_015365.2:c.487del	NP_056180.1:p.Thr163HisfsTer14
NM_015365.3:c.487del MANE Select	NP_056180.1:p.Thr163HisfsTer14
NM_001025580.2:c.474-47954del	NP_001020751.1:n.474-47954del
NM_001171689.2:c.118del	NP_001165160.1:p.Thr40HisfsTer14