Canonical Allele Identifier: CA566695930

Gene: AGER

Linked Data

• dbSNP Id: rs1286786566
• gnomAD v2: 6-32151503-T-TC
• gnomAD v4: 6-32183726-T-TC
• MyVariant Identifiers: chr6:g.32151503_32151504insC (hg19) ; chr6:g.32183726_32183727insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183728dup , CM000668.2:g.32183728dup	GRCh38
NC_000006.11:g.32151505dup , CM000668.1:g.32151505dup	GRCh37
NC_000006.10:g.32259483dup	NCBI36
NG_029868.1:g.5596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.183dup MANE Select	ENSP00000364217.4:p.Lys62GlufsTer?
ENST00000375055.6:c.183dup	ENSP00000364195.2:p.Lys62GlufsTer?
ENST00000375056.6:c.183dup	ENSP00000364196.2:p.Lys62GlufsTer?
ENST00000375065.6:c.-182+231dup	ENSP00000364206.6:n.-182+231dup
ENST00000375067.7:c.160-19dup	ENSP00000364208.3:n.160-19dup
ENST00000375069.7:c.183dup	ENSP00000364210.4:p.Lys62GlufsTer?
ENST00000375070.7:c.-121dup	ENSP00000364211.4:n.-121dup
ENST00000375076.8:c.183dup	ENSP00000364217.4:p.Lys62GlufsTer?
ENST00000438221.6:c.183dup	ENSP00000387887.2:p.Lys62GlufsTer?
ENST00000450110.5:c.183dup	ENSP00000398466.1:p.Lys62GlufsTer?
ENST00000484849.5:n.390dup
ENST00000538695.2:c.183dup	ENSP00000445389.1:p.Lys62GlufsTer?
ENST00000620802.4:c.183dup	ENSP00000484081.1:p.Lys62GlufsTer?
NM_001136.4:c.183dup	NP_001127.1:p.Lys62GlufsTer?
NM_001206929.1:c.183dup	NP_001193858.1:p.Lys62GlufsTer?
NM_001206932.1:c.160-19dup	NP_001193861.1:n.160-19dup
NM_001206934.1:c.183dup	NP_001193863.1:p.Lys62GlufsTer?
NM_001206936.1:c.183dup	NP_001193865.1:p.Lys62GlufsTer?
NM_001206940.1:c.183dup	NP_001193869.1:p.Lys62GlufsTer?
NM_001206954.1:c.183dup	NP_001193883.1:p.Lys62GlufsTer?
NM_001206966.1:c.183dup	NP_001193895.1:p.Lys62GlufsTer?
NM_172197.2:c.160-19dup	NP_751947.1:n.160-19dup
NR_038190.1:n.466dup
XM_017010328.2:c.276dup	XP_016865817.1:p.Lys93GlufsTer?
XR_001743189.2:n.341dup
XR_001743190.2:n.341dup
NM_001136.5:c.183dup MANE Select	NP_001127.1:p.Lys62GlufsTer?
NM_001206932.2:c.160-19dup	NP_001193861.1:n.160-19dup
NM_001206936.2:c.183dup	NP_001193865.1:p.Lys62GlufsTer?
NM_001206940.2:c.183dup	NP_001193869.1:p.Lys62GlufsTer?
NM_001206954.2:c.183dup	NP_001193883.1:p.Lys62GlufsTer?
NM_001206966.2:c.183dup	NP_001193895.1:p.Lys62GlufsTer?
NM_172197.3:c.160-19dup	NP_751947.1:n.160-19dup
NR_038190.2:n.397dup
NM_001206929.2:c.183dup	NP_001193858.1:p.Lys62GlufsTer?
NM_001206934.2:c.183dup	NP_001193863.1:p.Lys62GlufsTer?