Canonical Allele Identifier: CA2678121605

Gene: AGER

Linked Data

• gnomAD v4: 6-32183710-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183714del , CM000668.2:g.32183714del	GRCh38
NC_000006.11:g.32151491del , CM000668.1:g.32151491del	GRCh37
NC_000006.10:g.32259469del	NCBI36
NG_029868.1:g.5612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.199del MANE Select	ENSP00000364217.4:p.Gln67ArgfsTer?
ENST00000375055.6:c.199del	ENSP00000364195.2:p.Gln67ArgfsTer?
ENST00000375056.6:c.199del	ENSP00000364196.2:p.Gln67ArgfsTer?
ENST00000375065.6:c.-182+247del	ENSP00000364206.6:n.-182+247del
ENST00000375067.7:c.160-3del	ENSP00000364208.3:n.160-3del
ENST00000375069.7:c.199del	ENSP00000364210.4:p.Gln67ArgfsTer?
ENST00000375070.7:c.-105del	ENSP00000364211.4:n.-105del
ENST00000375076.8:c.199del	ENSP00000364217.4:p.Gln67ArgfsTer?
ENST00000438221.6:c.199del	ENSP00000387887.2:p.Gln67ArgfsTer?
ENST00000450110.5:c.199del	ENSP00000398466.1:p.Gln67ArgfsTer?
ENST00000484849.5:n.406del
ENST00000538695.2:c.199del	ENSP00000445389.1:p.Gln67ArgfsTer?
ENST00000620802.4:c.199del	ENSP00000484081.1:p.Gln67ArgfsTer?
NM_001136.4:c.199del	NP_001127.1:p.Gln67ArgfsTer?
NM_001206929.1:c.199del	NP_001193858.1:p.Gln67ArgfsTer?
NM_001206932.1:c.160-3del	NP_001193861.1:n.160-3del
NM_001206934.1:c.199del	NP_001193863.1:p.Gln67ArgfsTer?
NM_001206936.1:c.199del	NP_001193865.1:p.Gln67ArgfsTer?
NM_001206940.1:c.199del	NP_001193869.1:p.Gln67ArgfsTer?
NM_001206954.1:c.199del	NP_001193883.1:p.Gln67ArgfsTer?
NM_001206966.1:c.199del	NP_001193895.1:p.Gln67ArgfsTer?
NM_172197.2:c.160-3del	NP_751947.1:n.160-3del
NR_038190.1:n.482del
XM_017010328.2:c.292del	XP_016865817.1:p.Gln98ArgfsTer?
XR_001743189.2:n.357del
XR_001743190.2:n.357del
NM_001136.5:c.199del MANE Select	NP_001127.1:p.Gln67ArgfsTer?
NM_001206932.2:c.160-3del	NP_001193861.1:n.160-3del
NM_001206936.2:c.199del	NP_001193865.1:p.Gln67ArgfsTer?
NM_001206940.2:c.199del	NP_001193869.1:p.Gln67ArgfsTer?
NM_001206954.2:c.199del	NP_001193883.1:p.Gln67ArgfsTer?
NM_001206966.2:c.199del	NP_001193895.1:p.Gln67ArgfsTer?
NM_172197.3:c.160-3del	NP_751947.1:n.160-3del
NR_038190.2:n.413del
NM_001206929.2:c.199del	NP_001193858.1:p.Gln67ArgfsTer?
NM_001206934.2:c.199del	NP_001193863.1:p.Gln67ArgfsTer?