Canonical Allele Identifier: CA524878230

Gene: AGL

Linked Data

• dbSNP Id: rs1287873941
• gnomAD v2: 1-100346604-CTT-C
• gnomAD v4: 1-99881048-CTT-C
• MyVariant Identifiers: chr1:g.100346605_100346606del (hg19) ; chr1:g.99881049_99881050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881051_99881052del , CM000663.2:g.99881051_99881052del	GRCh38
NC_000001.10:g.100346607_100346608del , CM000663.1:g.100346607_100346608del	GRCh37
NC_000001.9:g.100119195_100119196del	NCBI36
NG_012865.1:g.35968_35969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1900-25_1900-24del MANE Select	ENSP00000355106.3:n.1900-25_1900-24del
ENST00000637337.1:n.2111-25_2111-24del
ENST00000294724.8:c.1900-25_1900-24del	ENSP00000294724.4:n.1900-25_1900-24del
ENST00000361302.7:c.1852-25_1852-24del	ENSP00000354971.3:n.1852-25_1852-24del
ENST00000361522.4:c.1849-25_1849-24del	ENSP00000354635.4:n.1849-25_1849-24del
ENST00000361915.7:c.1900-25_1900-24del	ENSP00000355106.3:n.1900-25_1900-24del
ENST00000370161.6:c.1852-25_1852-24del	ENSP00000359180.2:n.1852-25_1852-24del
ENST00000370163.7:c.1900-25_1900-24del	ENSP00000359182.3:n.1900-25_1900-24del
ENST00000370165.7:c.1900-25_1900-24del	ENSP00000359184.3:n.1900-25_1900-24del
NM_000028.2:c.1900-25_1900-24del	NP_000019.2:n.1900-25_1900-24del
NM_000642.2:c.1900-25_1900-24del	NP_000633.2:n.1900-25_1900-24del
NM_000643.2:c.1900-25_1900-24del	NP_000634.2:n.1900-25_1900-24del
NM_000644.2:c.1900-25_1900-24del	NP_000635.2:n.1900-25_1900-24del
NM_000645.2:c.1849-25_1849-24del	NP_000636.2:n.1849-25_1849-24del
NM_000646.2:c.1852-25_1852-24del	NP_000637.2:n.1852-25_1852-24del
XM_005270557.1:c.1900-25_1900-24del	XP_005270614.1:n.1900-25_1900-24del
XM_005270557.2:c.1900-25_1900-24del	XP_005270614.1:n.1900-25_1900-24del
XM_017000501.2:c.160-25_160-24del	XP_016855990.1:n.160-25_160-24del
NM_000642.3:c.1900-25_1900-24del MANE Select	NP_000633.2:n.1900-25_1900-24del