Canonical Allele Identifier: CA2678127008

Gene: AGER

Linked Data

• gnomAD v4: 6-32181609-C-CAGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181610_32181613dup , CM000668.2:g.32181610_32181613dup	GRCh38
NC_000006.11:g.32149387_32149390dup , CM000668.1:g.32149387_32149390dup	GRCh37
NC_000006.10:g.32257365_32257368dup	NCBI36
NG_029868.1:g.7710_7713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.984_987dup MANE Select	ENSP00000364217.4:p.Ala330AsnfsTer?
ENST00000375055.6:c.984_987dup	ENSP00000364195.2:p.Ala330AsnfsTer4
ENST00000375065.6:c.171_174dup	ENSP00000364206.6:p.Ala59AsnfsTer?
ENST00000375067.7:c.829_832dup	ENSP00000364208.3:p.Cys278Ter
ENST00000375069.7:c.1032_1035dup	ENSP00000364210.4:p.Ala346AsnfsTer?
ENST00000375070.7:c.662-136_662-133dup	ENSP00000364211.4:n.662-136_662-133dup
ENST00000375076.8:c.984_987dup	ENSP00000364217.4:p.Ala330AsnfsTer?
ENST00000438221.6:c.1032_1035dup	ENSP00000387887.2:p.Ala346AsnfsTer4
ENST00000469940.5:n.23_26dup
ENST00000473619.5:n.526_529dup
ENST00000484849.5:n.1191_1194dup
ENST00000488669.5:n.526_529dup
ENST00000620802.4:c.283-180_283-177dup	ENSP00000484081.1:n.283-180_283-177dup
NM_001136.4:c.984_987dup	NP_001127.1:p.Ala330AsnfsTer?
NM_001206929.1:c.1032_1035dup	NP_001193858.1:p.Ala346AsnfsTer?
NM_001206932.1:c.942_945dup	NP_001193861.1:p.Ala316AsnfsTer?
NM_001206934.1:c.1032_1035dup	NP_001193863.1:p.Ala346AsnfsTer4
NM_001206936.1:c.932_935dup	NP_001193865.1:p.Gln313ThrfsTer20
NM_001206940.1:c.984_987dup	NP_001193869.1:p.Ala330AsnfsTer4
NM_001206954.1:c.842_845dup	NP_001193883.1:p.Gln283ThrfsTer20
NM_001206966.1:c.984_987dup	NP_001193895.1:p.Ala330AsnfsTer4
NM_172197.2:c.829_832dup	NP_751947.1:p.Cys278Ter
NR_038190.1:n.1267_1270dup
XM_017010328.2:c.983_986dup	XP_016865817.1:p.Gln330ThrfsTer20
XR_001743189.2:n.1048_1051dup
XR_001743190.2:n.1000_1003dup
NM_001136.5:c.984_987dup MANE Select	NP_001127.1:p.Ala330AsnfsTer?
NM_001206932.2:c.942_945dup	NP_001193861.1:p.Ala316AsnfsTer?
NM_001206936.2:c.932_935dup	NP_001193865.1:p.Gln313ThrfsTer20
NM_001206940.2:c.984_987dup	NP_001193869.1:p.Ala330AsnfsTer4
NM_001206954.2:c.842_845dup	NP_001193883.1:p.Gln283ThrfsTer20
NM_001206966.2:c.984_987dup	NP_001193895.1:p.Ala330AsnfsTer4
NM_172197.3:c.829_832dup	NP_751947.1:p.Cys278Ter
NR_038190.2:n.1198_1201dup
NM_001206929.2:c.1032_1035dup	NP_001193858.1:p.Ala346AsnfsTer?
NM_001206934.2:c.1032_1035dup	NP_001193863.1:p.Ala346AsnfsTer4