Canonical Allele Identifier: CA870097172

Gene: ARHGAP6 AMELX

Linked Data

• dbSNP Id: rs1191883984
• gnomAD v3: X-11295621-T-TCTCTTC
• gnomAD v4: X-11295621-T-TCTCTTC
• MyVariant Identifiers: chrX:g.11313741_11313742insCTCTTC (hg19) ; chrX:g.11295621_11295622insCTCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11295626_11295631dup , CM000685.2:g.11295626_11295631dup	GRCh38
NC_000023.10:g.11313746_11313751dup , CM000685.1:g.11313746_11313751dup	GRCh37
NC_000023.9:g.11223667_11223672dup	NCBI36
NG_012040.1:g.7214_7219dup
NG_012494.1:g.375075_375080dup
NG_012494.2:g.375075_375080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337414.9:c.589-40920_589-40915dup (ARHGAP6) MANE Select	ENSP00000338967.4:n.589-40920_589-40915dup
ENST00000337414.8:c.589-40920_589-40915dup (ARHGAP6)	ENSP00000338967.4:n.589-40920_589-40915dup
ENST00000348912.4:c.54+784_54+789dup (AMELX)	ENSP00000335312.5:n.54+784_54+789dup
ENST00000380712.7:c.54+784_54+789dup (AMELX)	ENSP00000370088.3:n.54+784_54+789dup
ENST00000380714.7:c.54+784_54+789dup (AMELX) MANE Select	ENSP00000370090.3:n.54+784_54+789dup
ENST00000380718.1:c.589-40920_589-40915dup (ARHGAP6)	ENSP00000370094.1:n.589-40920_589-40915dup
ENST00000380736.5:c.-21-40920_-21-40915dup (ARHGAP6)	ENSP00000370112.1:n.-21-40920_-21-40915dup
ENST00000489330.6:n.844-40920_844-40915dup (ARHGAP6)
ENST00000495242.5:c.589-5149_589-5144dup (ARHGAP6)	ENSP00000435767.1:n.589-5149_589-5144dup
NM_001142.2:c.54+784_54+789dup (AMELX) MANE Select	NP_001133.1:n.54+784_54+789dup
NM_001287242.1:c.49-40920_49-40915dup (ARHGAP6)	NP_001274171.1:n.49-40920_49-40915dup
NM_006125.2:c.589-40920_589-40915dup (ARHGAP6)	NP_006116.2:n.589-40920_589-40915dup
NM_013427.2:c.589-40920_589-40915dup (ARHGAP6)	NP_038286.2:n.589-40920_589-40915dup
NM_182680.1:c.54+784_54+789dup (AMELX)	NP_872621.1:n.54+784_54+789dup
NM_182681.1:c.54+784_54+789dup (AMELX)	NP_872622.1:n.54+784_54+789dup
NR_109776.1:n.1462-5149_1462-5144dup (ARHGAP6)
XM_011545489.1:c.54+784_54+789dup (AMELX)	XP_011543791.1:n.54+784_54+789dup
XM_017029404.2:c.54+784_54+789dup (AMELX)	XP_016884893.1:n.54+784_54+789dup
NM_013427.3:c.589-40920_589-40915dup (ARHGAP6) MANE Select	NP_038286.2:n.589-40920_589-40915dup
NM_001287242.2:c.49-40920_49-40915dup (ARHGAP6)	NP_001274171.1:n.49-40920_49-40915dup
NM_006125.3:c.589-40920_589-40915dup (ARHGAP6)	NP_006116.2:n.589-40920_589-40915dup
NR_109776.2:n.1681-5149_1681-5144dup (ARHGAP6)