Canonical Allele Identifier: CA3737952

Gene: AGER

Linked Data

• dbSNP Id: rs780501411
• ExAC: 6:32149321 TC / T
• gnomAD v2: 6-32149321-TC-T
• gnomAD v3: 6-32181544-TC-T
• gnomAD v4: 6-32181544-TC-T
• MyVariant Identifiers: chr6:g.32149322del (hg19) ; chr6:g.32181545del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181550del , CM000668.2:g.32181550del	GRCh38
NC_000006.11:g.32149327del , CM000668.1:g.32149327del	GRCh37
NC_000006.10:g.32257305del	NCBI36
NG_029868.1:g.7778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+61del MANE Select	ENSP00000364217.4:n.991+61del
ENST00000375055.6:c.*8del	ENSP00000364195.2:n.*8del
ENST00000375065.6:c.178+61del	ENSP00000364206.6:n.178+61del
ENST00000375067.7:c.836+61del	ENSP00000364208.3:n.836+61del
ENST00000375069.7:c.1039+61del	ENSP00000364210.4:n.1039+61del
ENST00000375070.7:c.662-68del	ENSP00000364211.4:n.662-68del
ENST00000375076.8:c.991+61del	ENSP00000364217.4:n.991+61del
ENST00000438221.6:c.*8del	ENSP00000387887.2:n.*8del
ENST00000469940.5:n.91del
ENST00000473619.5:n.533+61del
ENST00000484849.5:n.1198+61del
ENST00000488669.5:n.594del
ENST00000620802.4:c.283-112del	ENSP00000484081.1:n.283-112del
NM_001136.4:c.991+61del	NP_001127.1:n.991+61del
NM_001206929.1:c.1039+61del	NP_001193858.1:n.1039+61del
NM_001206932.1:c.949+61del	NP_001193861.1:n.949+61del
NM_001206934.1:c.*8del	NP_001193863.1:n.*8del
NM_001206936.1:c.1000del	NP_001193865.1:p.Asp334MetfsTer29
NM_001206940.1:c.*8del	NP_001193869.1:n.*8del
NM_001206954.1:c.910del	NP_001193883.1:p.Asp304MetfsTer29
NM_001206966.1:c.*8del	NP_001193895.1:n.*8del
NM_172197.2:c.836+61del	NP_751947.1:n.836+61del
NR_038190.1:n.1274+61del
XM_017010328.2:c.1051del	XP_016865817.1:p.Asp351MetfsTer29
XR_001743189.2:n.1055+61del
XR_001743190.2:n.1007+61del
NM_001136.5:c.991+61del MANE Select	NP_001127.1:n.991+61del
NM_001206932.2:c.949+61del	NP_001193861.1:n.949+61del
NM_001206936.2:c.1000del	NP_001193865.1:p.Asp334MetfsTer29
NM_001206940.2:c.*8del	NP_001193869.1:n.*8del
NM_001206954.2:c.910del	NP_001193883.1:p.Asp304MetfsTer29
NM_001206966.2:c.*8del	NP_001193895.1:n.*8del
NM_172197.3:c.836+61del	NP_751947.1:n.836+61del
NR_038190.2:n.1205+61del
NM_001206929.2:c.1039+61del	NP_001193858.1:n.1039+61del
NM_001206934.2:c.*8del	NP_001193863.1:n.*8del