Canonical Allele Identifier: CA6435286

Gene: A2ML1

Linked Data

• ClinVar Variation Id: 445738
• ClinVar RCV Id: RCV000514252 ; RCV001193880
• dbSNP Id: rs750639846
• ExAC: 12:8982383 GGGA / G
• gnomAD v2: 12-8982383-GGGA-G
• gnomAD v3: 12-8829787-GGGA-G
• gnomAD v4: 12-8829787-GGGA-G
• MyVariant Identifiers: chr12:g.8982384_8982386del (hg19) ; chr12:g.8829789_8829791del (hg38) ; chr12:g.8829788_8829790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8829795_8829797del , CM000674.2:g.8829795_8829797del	GRCh38
NC_000012.11:g.8982391_8982393del , CM000674.1:g.8982391_8982393del	GRCh37
NC_000012.10:g.8873658_8873660del	NCBI36
NG_042857.1:g.12324_12326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.462+16_462+18del MANE Select	ENSP00000299698.7:n.462+16_462+18del
ENST00000299698.11:c.462+16_462+18del	ENSP00000299698.7:n.462+16_462+18del
ENST00000537546.1:n.286+16_286+18del
NM_144670.4:c.462+16_462+18del	NP_653271.2:n.462+16_462+18del
NM_144670.5:c.462+16_462+18del	NP_653271.2:n.462+16_462+18del
XM_011520566.1:c.462+16_462+18del	XP_011518868.1:n.462+16_462+18del
XM_011520567.1:c.462+16_462+18del	XP_011518869.1:n.462+16_462+18del
XR_931275.1:n.560+16_560+18del
XM_011520566.2:c.462+16_462+18del	XP_011518868.1:n.462+16_462+18del
XM_011520567.2:c.462+16_462+18del	XP_011518869.1:n.462+16_462+18del
XM_017018868.1:c.462+16_462+18del	XP_016874357.1:n.462+16_462+18del
XM_017018869.1:c.462+16_462+18del	XP_016874358.1:n.462+16_462+18del
XM_017018870.1:c.462+16_462+18del	XP_016874359.1:n.462+16_462+18del
XR_001748594.1:n.560+16_560+18del
NM_144670.6:c.462+16_462+18del MANE Select	NP_653271.3:n.462+16_462+18del