Canonical Allele Identifier: CA2678121385

Gene: AGER

Linked Data

• gnomAD v4: 6-32183553-ACGGTAGACACGGACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183560_32183574del , CM000668.2:g.32183560_32183574del	GRCh38
NC_000006.11:g.32151337_32151351del , CM000668.1:g.32151337_32151351del	GRCh37
NC_000006.10:g.32259315_32259329del	NCBI36
NG_029868.1:g.5755_5769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.342_355+1del
ENST00000375055.6:c.342_355+1del
ENST00000375056.6:c.342_355+1del
ENST00000375065.6:c.-182+390_-182+404del	ENSP00000364206.6:n.-182+390_-182+404del
ENST00000375067.7:c.300_313+1del
ENST00000375069.7:c.342_355+1del
ENST00000375070.7:c.39_52+1del
ENST00000375076.8:c.342_355+1del
ENST00000438221.6:c.342_355+1del
ENST00000450110.5:c.342_342+14del
ENST00000484849.5:n.549_562+1del
ENST00000538695.2:c.342_355+1del
ENST00000620802.4:c.282+60_282+74del	ENSP00000484081.1:n.282+60_282+74del
NM_001136.4:c.342_355+1del
NM_001206929.1:c.342_355+1del
NM_001206932.1:c.300_313+1del
NM_001206934.1:c.342_355+1del
NM_001206936.1:c.342_355+1del
NM_001206940.1:c.342_355+1del
NM_001206954.1:c.342_355+1del
NM_001206966.1:c.342_355+1del
NM_172197.2:c.300_313+1del
NR_038190.1:n.625_638+1del
XM_017010328.2:c.435_448+1del
XR_001743189.2:n.500_513+1del
XR_001743190.2:n.500_513+1del
NM_001136.5:c.342_355+1del
NM_001206932.2:c.300_313+1del
NM_001206936.2:c.342_355+1del
NM_001206940.2:c.342_355+1del
NM_001206954.2:c.342_355+1del
NM_001206966.2:c.342_355+1del
NM_172197.3:c.300_313+1del
NR_038190.2:n.556_569+1del
NM_001206929.2:c.342_355+1del
NM_001206934.2:c.342_355+1del