Canonical Allele Identifier: CA2678121294

Gene: AGER

Linked Data

• gnomAD v4: 6-32183474-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183475_32183476del , CM000668.2:g.32183475_32183476del	GRCh38
NC_000006.11:g.32151252_32151253del , CM000668.1:g.32151252_32151253del	GRCh37
NC_000006.10:g.32259230_32259231del	NCBI36
NG_029868.1:g.5847_5848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.355+79_355+80del MANE Select	ENSP00000364217.4:n.355+79_355+80del
ENST00000375055.6:c.355+79_355+80del	ENSP00000364195.2:n.355+79_355+80del
ENST00000375056.6:c.355+79_355+80del	ENSP00000364196.2:n.355+79_355+80del
ENST00000375065.6:c.-182+482_-182+483del	ENSP00000364206.6:n.-182+482_-182+483del
ENST00000375067.7:c.313+79_313+80del	ENSP00000364208.3:n.313+79_313+80del
ENST00000375069.7:c.355+79_355+80del	ENSP00000364210.4:n.355+79_355+80del
ENST00000375070.7:c.52+79_52+80del	ENSP00000364211.4:n.52+79_52+80del
ENST00000375076.8:c.355+79_355+80del	ENSP00000364217.4:n.355+79_355+80del
ENST00000438221.6:c.355+79_355+80del	ENSP00000387887.2:n.355+79_355+80del
ENST00000450110.5:c.343-36_343-35del	ENSP00000398466.1:n.343-36_343-35del
ENST00000484849.5:n.562+79_562+80del
ENST00000538695.2:c.356-36_356-35del	ENSP00000445389.1:n.356-36_356-35del
ENST00000620802.4:c.282+152_282+153del	ENSP00000484081.1:n.282+152_282+153del
NM_001136.4:c.355+79_355+80del	NP_001127.1:n.355+79_355+80del
NM_001206929.1:c.355+79_355+80del	NP_001193858.1:n.355+79_355+80del
NM_001206932.1:c.313+79_313+80del	NP_001193861.1:n.313+79_313+80del
NM_001206934.1:c.355+79_355+80del	NP_001193863.1:n.355+79_355+80del
NM_001206936.1:c.355+79_355+80del	NP_001193865.1:n.355+79_355+80del
NM_001206940.1:c.355+79_355+80del	NP_001193869.1:n.355+79_355+80del
NM_001206954.1:c.355+79_355+80del	NP_001193883.1:n.355+79_355+80del
NM_001206966.1:c.355+79_355+80del	NP_001193895.1:n.355+79_355+80del
NM_172197.2:c.313+79_313+80del	NP_751947.1:n.313+79_313+80del
NR_038190.1:n.638+79_638+80del
XM_017010328.2:c.448+79_448+80del	XP_016865817.1:n.448+79_448+80del
XR_001743189.2:n.513+79_513+80del
XR_001743190.2:n.513+79_513+80del
NM_001136.5:c.355+79_355+80del MANE Select	NP_001127.1:n.355+79_355+80del
NM_001206932.2:c.313+79_313+80del	NP_001193861.1:n.313+79_313+80del
NM_001206936.2:c.355+79_355+80del	NP_001193865.1:n.355+79_355+80del
NM_001206940.2:c.355+79_355+80del	NP_001193869.1:n.355+79_355+80del
NM_001206954.2:c.355+79_355+80del	NP_001193883.1:n.355+79_355+80del
NM_001206966.2:c.355+79_355+80del	NP_001193895.1:n.355+79_355+80del
NM_172197.3:c.313+79_313+80del	NP_751947.1:n.313+79_313+80del
NR_038190.2:n.569+79_569+80del
NM_001206929.2:c.355+79_355+80del	NP_001193858.1:n.355+79_355+80del
NM_001206934.2:c.355+79_355+80del	NP_001193863.1:n.355+79_355+80del