Canonical Allele Identifier: CA3146878

Gene: AGA

Linked Data

• ClinVar Variation Id: 2733436
• ClinVar RCV Id: RCV003494607
• dbSNP Id: rs768541259
• ExAC: 4:178358543 A / ACAAAAGG
• gnomAD v2: 4-178358543-A-ACAAAAGG
• gnomAD v3: 4-177437389-A-ACAAAAGG
• gnomAD v4: 4-177437389-A-ACAAAAGG
• MyVariant Identifiers: chr4:g.178358543_178358544insCAAAAGG (hg19) ; chr4:g.177437389_177437390insCAAAAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437394_177437400dup , CM000666.2:g.177437394_177437400dup	GRCh38
NC_000004.11:g.178358548_178358554dup , CM000666.1:g.178358548_178358554dup	GRCh37
NC_000004.10:g.178595542_178595548dup	NCBI36
NG_011845.2:g.10108_10114dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+9_622+15dup MANE Select	ENSP00000264595.2:n.622+9_622+15dup
ENST00000264595.6:c.622+9_622+15dup	ENSP00000264595.2:n.622+9_622+15dup
ENST00000502310.5:c.277+9_277+15dup	ENSP00000423798.1:n.277+9_277+15dup
ENST00000506853.5:n.656+9_656+15dup
ENST00000510635.1:c.318+9_318+15dup
ENST00000510955.5:n.552_558dup
NM_000027.3:c.622+9_622+15dup	NP_000018.2:n.622+9_622+15dup
NM_001171988.1:c.622+9_622+15dup	NP_001165459.1:n.622+9_622+15dup
NR_033655.1:n.750+9_750+15dup
XM_006714123.2:c.622+9_622+15dup	XP_006714186.1:n.622+9_622+15dup
XR_001741155.2:n.716+9_716+15dup
NM_000027.4:c.622+9_622+15dup MANE Select	NP_000018.2:n.622+9_622+15dup
NM_001171988.2:c.622+9_622+15dup	NP_001165459.1:n.622+9_622+15dup
NR_033655.2:n.684+9_684+15dup