Canonical Allele Identifier: CA2678126796

Gene: AGER

Linked Data

• gnomAD v4: 6-32181411-GTCCCCAGGCCTCCCAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181420_32181437del , CM000668.2:g.32181420_32181437del	GRCh38
NC_000006.11:g.32149197_32149214del , CM000668.1:g.32149197_32149214del	GRCh37
NC_000006.10:g.32257175_32257192del	NCBI36
NG_029868.1:g.7894_7911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1040_1057del MANE Select	ENSP00000364217.4:p.Ile347_Gly352del
ENST00000375055.6:c.*29+95_*29+112del	ENSP00000364195.2:n.*29+95_*29+112del
ENST00000375065.6:c.227_244del	ENSP00000364206.6:p.Ile76_Gly81del
ENST00000375067.7:c.885_902del	ENSP00000364208.3:p.Pro296_Asp301del
ENST00000375069.7:c.1088_1105del	ENSP00000364210.4:p.Ile363_Gly368del
ENST00000375070.7:c.710_727del	ENSP00000364211.4:p.Ile237_Gly242del
ENST00000375076.8:c.1040_1057del	ENSP00000364217.4:p.Ile347_Gly352del
ENST00000438221.6:c.*29+95_*29+112del	ENSP00000387887.2:n.*29+95_*29+112del
ENST00000469940.5:n.207_224del
ENST00000473619.5:n.582_599del
ENST00000484849.5:n.1247_1264del
ENST00000488669.5:n.615+95_615+112del
ENST00000620802.4:c.287_304del
NM_001136.4:c.1040_1057del	NP_001127.1:p.Ile347_Gly352del
NM_001206929.1:c.1088_1105del	NP_001193858.1:p.Ile363_Gly368del
NM_001206932.1:c.998_1015del	NP_001193861.1:p.Ile333_Gly338del
NM_001206934.1:c.*29+95_*29+112del	NP_001193863.1:n.*29+95_*29+112del
NM_001206936.1:c.1021+95_1021+112del	NP_001193865.1:n.1021+95_1021+112del
NM_001206940.1:c.*29+95_*29+112del	NP_001193869.1:n.*29+95_*29+112del
NM_001206954.1:c.931+95_931+112del	NP_001193883.1:n.931+95_931+112del
NM_001206966.1:c.*29+95_*29+112del	NP_001193895.1:n.*29+95_*29+112del
NM_172197.2:c.885_902del	NP_751947.1:p.Pro296_Asp301del
NR_038190.1:n.1323_1340del
XM_017010328.2:c.1072+95_1072+112del	XP_016865817.1:n.1072+95_1072+112del
XR_001743189.2:n.1104_1121del
XR_001743190.2:n.1056_1073del
NM_001136.5:c.1040_1057del MANE Select	NP_001127.1:p.Ile347_Gly352del
NM_001206932.2:c.998_1015del	NP_001193861.1:p.Ile333_Gly338del
NM_001206936.2:c.1021+95_1021+112del	NP_001193865.1:n.1021+95_1021+112del
NM_001206940.2:c.*29+95_*29+112del	NP_001193869.1:n.*29+95_*29+112del
NM_001206954.2:c.931+95_931+112del	NP_001193883.1:n.931+95_931+112del
NM_001206966.2:c.*29+95_*29+112del	NP_001193895.1:n.*29+95_*29+112del
NM_172197.3:c.885_902del	NP_751947.1:p.Pro296_Asp301del
NR_038190.2:n.1254_1271del
NM_001206929.2:c.1088_1105del	NP_001193858.1:p.Ile363_Gly368del
NM_001206934.2:c.*29+95_*29+112del	NP_001193863.1:n.*29+95_*29+112del