Canonical Allele Identifier: CA616397837

Gene: AMN

Linked Data

• dbSNP Id: rs1276731672
• gnomAD v2: 14-103389026-A-ATGGGCGTCC
• gnomAD v4: 14-102922689-A-ATGGGCGTCC
• MyVariant Identifiers: chr14:g.103389026_103389027insTGGGCGTCC (hg19) ; chr14:g.102922689_102922690insTGGGCGTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102922695_102922703dup , CM000676.2:g.102922695_102922703dup	GRCh38
NC_000014.8:g.103389032_103389040dup , CM000676.1:g.103389032_103389040dup	GRCh37
NC_000014.7:g.102458785_102458793dup	NCBI36
NG_008276.2:g.5040_5048dup , LRG_642:g.5040_5048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299155.10:c.7_15dup MANE Select	ENSP00000299155.6:p.Gly5_Arg6insValLeuGly
ENST00000299155.9:c.7_15dup	ENSP00000299155.5:p.Gly5_Arg6insValLeuGly
NM_030943.3:c.7_15dup , LRG_642t1:c.7_15dup	NP_112205.2:p.Gly5_Arg6insValLeuGly
XM_011537202.1:c.-175_-167dup	XP_011535504.1:n.-175_-167dup
XM_011537202.3:c.-175_-167dup	XP_011535504.1:n.-175_-167dup
XM_024449714.1:c.103_111dup	XP_024305482.1:p.Gly37_Arg38insValLeuGly
NM_030943.4:c.7_15dup MANE Select	NP_112205.2:p.Gly5_Arg6insValLeuGly