Canonical Allele Identifier: CA566695861

Gene: AGER

Linked Data

• dbSNP Id: rs1561872488
• gnomAD v2: 6-32150056-TG-T
• gnomAD v4: 6-32182279-TG-T
• MyVariant Identifiers: chr6:g.32150057del (hg19) ; chr6:g.32182280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182283del , CM000668.2:g.32182283del	GRCh38
NC_000006.11:g.32150060del , CM000668.1:g.32150060del	GRCh37
NC_000006.10:g.32258038del	NCBI36
NG_029868.1:g.7043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.931del MANE Select	ENSP00000364217.4:p.Gln311ArgfsTer?
ENST00000375055.6:c.931del	ENSP00000364195.2:p.Gln311ArgfsTer?
ENST00000375065.6:c.118del	ENSP00000364206.6:p.Gln40ArgfsTer?
ENST00000375067.7:c.809+259del	ENSP00000364208.3:n.809+259del
ENST00000375069.7:c.979del	ENSP00000364210.4:p.Gln327ArgfsTer?
ENST00000375070.7:c.628del	ENSP00000364211.4:p.Gln210ArgfsTer22
ENST00000375076.8:c.931del	ENSP00000364217.4:p.Gln311ArgfsTer?
ENST00000438221.6:c.979del	ENSP00000387887.2:p.Gln327ArgfsTer?
ENST00000473619.5:n.473del
ENST00000484849.5:n.1138del
ENST00000488669.5:n.473del
ENST00000620802.4:c.283-847del	ENSP00000484081.1:n.283-847del
NM_001136.4:c.931del	NP_001127.1:p.Gln311ArgfsTer?
NM_001206929.1:c.979del	NP_001193858.1:p.Gln327ArgfsTer?
NM_001206932.1:c.889del	NP_001193861.1:p.Gln297ArgfsTer?
NM_001206934.1:c.979del	NP_001193863.1:p.Gln327ArgfsTer?
NM_001206936.1:c.879del	NP_001193865.1:p.Arg294GlyfsTer21
NM_001206940.1:c.931del	NP_001193869.1:p.Gln311ArgfsTer?
NM_001206954.1:c.822+288del	NP_001193883.1:n.822+288del
NM_001206966.1:c.931del	NP_001193895.1:p.Gln311ArgfsTer?
NM_172197.2:c.809+259del	NP_751947.1:n.809+259del
NR_038190.1:n.1214del
XM_017010328.2:c.963+288del	XP_016865817.1:n.963+288del
XR_001743189.2:n.1028+288del
XR_001743190.2:n.980+288del
NM_001136.5:c.931del MANE Select	NP_001127.1:p.Gln311ArgfsTer?
NM_001206932.2:c.889del	NP_001193861.1:p.Gln297ArgfsTer?
NM_001206936.2:c.879del	NP_001193865.1:p.Arg294GlyfsTer21
NM_001206940.2:c.931del	NP_001193869.1:p.Gln311ArgfsTer?
NM_001206954.2:c.822+288del	NP_001193883.1:n.822+288del
NM_001206966.2:c.931del	NP_001193895.1:p.Gln311ArgfsTer?
NM_172197.3:c.809+259del	NP_751947.1:n.809+259del
NR_038190.2:n.1145del
NM_001206929.2:c.979del	NP_001193858.1:p.Gln327ArgfsTer?
NM_001206934.2:c.979del	NP_001193863.1:p.Gln327ArgfsTer?