Canonical Allele Identifier: CA3587515
Gene: PROP1 HGNC NCBI

Linked Data

dbSNP Id: rs751165969
ExAC: 5:177419901 C / CTGG
gnomAD v2: 5-177419901-C-CTGG
gnomAD v3: 5-177992900-C-CTGG
gnomAD v4: 5-177992900-C-CTGG
MyVariant Identifiers: chr5:g.177419904_177419905insTGG (hg19) chr5:g.177419901_177419902insTGG (hg19) chr5:g.177992903_177992904insTGG (hg38) chr5:g.177992900_177992901insTGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992912_177992914dup , CM000667.2:g.177992912_177992914dup GRCh38
NC_000005.9:g.177419913_177419915dup , CM000667.1:g.177419913_177419915dup GRCh37
NC_000005.8:g.177352519_177352521dup NCBI36
NG_015889.1:g.8340_8342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.487_489dup MANE Select ENSP00000311290.2:p.Pro163_Val164insPro
NM_006261.4:c.487_489dup NP_006252.3:p.Pro163_Val164insPro
NM_006261.5:c.487_489dup MANE Select NP_006252.4:p.Pro163_Val164insPro
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