Canonical Allele Identifier: CA1619452915

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183482_32183483delinsTG , CM000668.2:g.32183482_32183483delinsTG	GRCh38
NC_000006.11:g.32151259_32151260delinsTG , CM000668.1:g.32151259_32151260delinsTG	GRCh37
NC_000006.10:g.32259237_32259238delinsTG	NCBI36
NG_029868.1:g.5840_5841delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.355+72_355+73delinsCA MANE Select	ENSP00000364217.4:n.355+72_355+73delinsCA...
ENST00000375055.6:c.355+72_355+73delinsCA	ENSP00000364195.2:n.355+72_355+73delinsCA...
ENST00000375056.6:c.355+72_355+73delinsCA	ENSP00000364196.2:n.355+72_355+73delinsCA...
ENST00000375065.6:c.-182+475_-182+476delinsCA	ENSP00000364206.6:n.-182+475_-182+476deli...
ENST00000375067.7:c.313+72_313+73delinsCA	ENSP00000364208.3:n.313+72_313+73delinsCA...
ENST00000375069.7:c.355+72_355+73delinsCA	ENSP00000364210.4:n.355+72_355+73delinsCA...
ENST00000375070.7:c.52+72_52+73delinsCA	ENSP00000364211.4:n.52+72_52+73delinsCA
ENST00000375076.8:c.355+72_355+73delinsCA	ENSP00000364217.4:n.355+72_355+73delinsCA...
ENST00000438221.6:c.355+72_355+73delinsCA	ENSP00000387887.2:n.355+72_355+73delinsCA...
ENST00000450110.5:c.343-43_343-42delinsCA	ENSP00000398466.1:n.343-43_343-42delinsCA...
ENST00000484849.5:n.562+72_562+73delinsCA
ENST00000538695.2:c.356-43_356-42delinsCA	ENSP00000445389.1:n.356-43_356-42delinsCA...
ENST00000620802.4:c.282+145_282+146delinsCA	ENSP00000484081.1:n.282+145_282+146delins...
NM_001136.4:c.355+72_355+73delinsCA	NP_001127.1:n.355+72_355+73delinsCA
NM_001206929.1:c.355+72_355+73delinsCA	NP_001193858.1:n.355+72_355+73delinsCA
NM_001206932.1:c.313+72_313+73delinsCA	NP_001193861.1:n.313+72_313+73delinsCA
NM_001206934.1:c.355+72_355+73delinsCA	NP_001193863.1:n.355+72_355+73delinsCA
NM_001206936.1:c.355+72_355+73delinsCA	NP_001193865.1:n.355+72_355+73delinsCA
NM_001206940.1:c.355+72_355+73delinsCA	NP_001193869.1:n.355+72_355+73delinsCA
NM_001206954.1:c.355+72_355+73delinsCA	NP_001193883.1:n.355+72_355+73delinsCA
NM_001206966.1:c.355+72_355+73delinsCA	NP_001193895.1:n.355+72_355+73delinsCA
NM_172197.2:c.313+72_313+73delinsCA	NP_751947.1:n.313+72_313+73delinsCA
NR_038190.1:n.638+72_638+73delinsCA
XM_017010328.2:c.448+72_448+73delinsCA	XP_016865817.1:n.448+72_448+73delinsCA
XR_001743189.2:n.513+72_513+73delinsCA
XR_001743190.2:n.513+72_513+73delinsCA
NM_001136.5:c.355+72_355+73delinsCA MANE Select	NP_001127.1:n.355+72_355+73delinsCA
NM_001206932.2:c.313+72_313+73delinsCA	NP_001193861.1:n.313+72_313+73delinsCA
NM_001206936.2:c.355+72_355+73delinsCA	NP_001193865.1:n.355+72_355+73delinsCA
NM_001206940.2:c.355+72_355+73delinsCA	NP_001193869.1:n.355+72_355+73delinsCA
NM_001206954.2:c.355+72_355+73delinsCA	NP_001193883.1:n.355+72_355+73delinsCA
NM_001206966.2:c.355+72_355+73delinsCA	NP_001193895.1:n.355+72_355+73delinsCA
NM_172197.3:c.313+72_313+73delinsCA	NP_751947.1:n.313+72_313+73delinsCA
NR_038190.2:n.569+72_569+73delinsCA
NM_001206929.2:c.355+72_355+73delinsCA	NP_001193858.1:n.355+72_355+73delinsCA
NM_001206934.2:c.355+72_355+73delinsCA	NP_001193863.1:n.355+72_355+73delinsCA