Canonical Allele Identifier: CA2678126631

Gene: AGER

Linked Data

• gnomAD v4: 6-32181298-TCGCTTGCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181300_32181308del , CM000668.2:g.32181300_32181308del	GRCh38
NC_000006.11:g.32149077_32149085del , CM000668.1:g.32149077_32149085del	GRCh37
NC_000006.10:g.32257055_32257063del	NCBI36
NG_029868.1:g.8016_8024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1118+44_1118+52del MANE Select	ENSP00000364217.4:n.1118+44_1118+52del
ENST00000375055.6:c.*30-68_*30-60del	ENSP00000364195.2:n.*30-68_*30-60del
ENST00000375065.6:c.305+44_305+52del	ENSP00000364206.6:n.305+44_305+52del
ENST00000375067.7:c.963+44_963+52del	ENSP00000364208.3:n.963+44_963+52del
ENST00000375069.7:c.1166+44_1166+52del	ENSP00000364210.4:n.1166+44_1166+52del
ENST00000375070.7:c.788+44_788+52del	ENSP00000364211.4:n.788+44_788+52del
ENST00000375076.8:c.1118+44_1118+52del	ENSP00000364217.4:n.1118+44_1118+52del
ENST00000438221.6:c.*30-68_*30-60del	ENSP00000387887.2:n.*30-68_*30-60del
ENST00000469940.5:n.285+44_285+52del
ENST00000473619.5:n.660+44_660+52del
ENST00000484849.5:n.1325+44_1325+52del
ENST00000488669.5:n.616-68_616-60del
ENST00000620802.4:c.365+44_365+52del	ENSP00000484081.1:n.365+44_365+52del
NM_001136.4:c.1118+44_1118+52del	NP_001127.1:n.1118+44_1118+52del
NM_001206929.1:c.1166+44_1166+52del	NP_001193858.1:n.1166+44_1166+52del
NM_001206932.1:c.1076+44_1076+52del	NP_001193861.1:n.1076+44_1076+52del
NM_001206934.1:c.*30-68_*30-60del	NP_001193863.1:n.*30-68_*30-60del
NM_001206936.1:c.1022-68_1022-60del	NP_001193865.1:n.1022-68_1022-60del
NM_001206940.1:c.*30-68_*30-60del	NP_001193869.1:n.*30-68_*30-60del
NM_001206954.1:c.932-68_932-60del	NP_001193883.1:n.932-68_932-60del
NM_001206966.1:c.*30-166_*30-158del	NP_001193895.1:n.*30-166_*30-158del
NM_172197.2:c.963+44_963+52del	NP_751947.1:n.963+44_963+52del
NR_038190.1:n.1401+44_1401+52del
XM_017010328.2:c.1073-68_1073-60del	XP_016865817.1:n.1073-68_1073-60del
XR_001743189.2:n.1182+44_1182+52del
XR_001743190.2:n.1134+44_1134+52del
NM_001136.5:c.1118+44_1118+52del MANE Select	NP_001127.1:n.1118+44_1118+52del
NM_001206932.2:c.1076+44_1076+52del	NP_001193861.1:n.1076+44_1076+52del
NM_001206936.2:c.1022-68_1022-60del	NP_001193865.1:n.1022-68_1022-60del
NM_001206940.2:c.*30-68_*30-60del	NP_001193869.1:n.*30-68_*30-60del
NM_001206954.2:c.932-68_932-60del	NP_001193883.1:n.932-68_932-60del
NM_001206966.2:c.*30-166_*30-158del	NP_001193895.1:n.*30-166_*30-158del
NM_172197.3:c.963+44_963+52del	NP_751947.1:n.963+44_963+52del
NR_038190.2:n.1332+44_1332+52del
NM_001206929.2:c.1166+44_1166+52del	NP_001193858.1:n.1166+44_1166+52del
NM_001206934.2:c.*30-68_*30-60del	NP_001193863.1:n.*30-68_*30-60del