Canonical Allele Identifier: CA2678121487

Gene: AGER

Linked Data

• gnomAD v4: 6-32183649-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183651del , CM000668.2:g.32183651del	GRCh38
NC_000006.11:g.32151428del , CM000668.1:g.32151428del	GRCh37
NC_000006.10:g.32259406del	NCBI36
NG_029868.1:g.5673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.260del MANE Select	ENSP00000364217.4:p.Pro87ArgfsTer16
ENST00000375055.6:c.260del	ENSP00000364195.2:p.Pro87ArgfsTer16
ENST00000375056.6:c.260del	ENSP00000364196.2:p.Pro87ArgfsTer16
ENST00000375065.6:c.-182+308del	ENSP00000364206.6:n.-182+308del
ENST00000375067.7:c.218del	ENSP00000364208.3:p.Pro73ArgfsTer16
ENST00000375069.7:c.260del	ENSP00000364210.4:p.Pro87ArgfsTer16
ENST00000375070.7:c.-44del	ENSP00000364211.4:n.-44del
ENST00000375076.8:c.260del	ENSP00000364217.4:p.Pro87ArgfsTer16
ENST00000438221.6:c.260del	ENSP00000387887.2:p.Pro87ArgfsTer16
ENST00000450110.5:c.260del	ENSP00000398466.1:p.Pro87ArgfsTer16
ENST00000484849.5:n.467del
ENST00000538695.2:c.260del	ENSP00000445389.1:p.Pro87ArgfsTer16
ENST00000620802.4:c.260del	ENSP00000484081.1:p.Pro87ArgfsTer?
NM_001136.4:c.260del	NP_001127.1:p.Pro87ArgfsTer16
NM_001206929.1:c.260del	NP_001193858.1:p.Pro87ArgfsTer16
NM_001206932.1:c.218del	NP_001193861.1:p.Pro73ArgfsTer16
NM_001206934.1:c.260del	NP_001193863.1:p.Pro87ArgfsTer16
NM_001206936.1:c.260del	NP_001193865.1:p.Pro87ArgfsTer16
NM_001206940.1:c.260del	NP_001193869.1:p.Pro87ArgfsTer16
NM_001206954.1:c.260del	NP_001193883.1:p.Pro87ArgfsTer16
NM_001206966.1:c.260del	NP_001193895.1:p.Pro87ArgfsTer16
NM_172197.2:c.218del	NP_751947.1:p.Pro73ArgfsTer16
NR_038190.1:n.543del
XM_017010328.2:c.353del	XP_016865817.1:p.Pro118ArgfsTer16
XR_001743189.2:n.418del
XR_001743190.2:n.418del
NM_001136.5:c.260del MANE Select	NP_001127.1:p.Pro87ArgfsTer16
NM_001206932.2:c.218del	NP_001193861.1:p.Pro73ArgfsTer16
NM_001206936.2:c.260del	NP_001193865.1:p.Pro87ArgfsTer16
NM_001206940.2:c.260del	NP_001193869.1:p.Pro87ArgfsTer16
NM_001206954.2:c.260del	NP_001193883.1:p.Pro87ArgfsTer16
NM_001206966.2:c.260del	NP_001193895.1:p.Pro87ArgfsTer16
NM_172197.3:c.218del	NP_751947.1:p.Pro73ArgfsTer16
NR_038190.2:n.474del
NM_001206929.2:c.260del	NP_001193858.1:p.Pro87ArgfsTer16
NM_001206934.2:c.260del	NP_001193863.1:p.Pro87ArgfsTer16