Canonical Allele Identifier: CA631305925
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1478307297
gnomAD v2: 19-2251954-T-TGACCCCTGCGCCGCGCG
gnomAD v3: 19-2251955-T-TGACCCCTGCGCCGCGCG
gnomAD v4: 19-2251955-T-TGACCCCTGCGCCGCGCG
MyVariant Identifiers: chr19:g.2251954_2251955insGACCCCTGCGCCGCGCG (hg19) chr19:g.2251955_2251956insGACCCCTGCGCCGCGCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251959_2251975dup , CM000681.2:g.2251959_2251975dup GRCh38
NC_000019.9:g.2251958_2251974dup , CM000681.1:g.2251958_2251974dup GRCh37
NC_000019.8:g.2202958_2202974dup NCBI36
NG_012190.1:g.7846_7862dup
NG_032853.1:g.9452_9468dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*2_*18dup MANE Select ENSP00000221496.2:n.*2_*18dup
ENST00000221496.4:c.*2_*18dup ENSP00000221496.2:n.*2_*18dup
NM_000479.3:c.*2_*18dup NP_000470.2:n.*2_*18dup
NM_000479.4:c.*2_*18dup NP_000470.2:n.*2_*18dup
NM_000479.5:c.*2_*18dup MANE Select NP_000470.3:n.*2_*18dup
Search 100 bp 5'
Search 100 bp 3'