Canonical Allele Identifier: CA2147230612

Gene: PROX2 YLPM1

Linked Data

• dbSNP Id: rs2091731096
• gnomAD v4: 14-74855010-TTTGATAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74855011_74855019del , CM000676.2:g.74855011_74855019del	GRCh38
NC_000014.8:g.75321714_75321722del , CM000676.1:g.75321714_75321722del	GRCh37
NC_000014.7:g.74391467_74391475del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000556489.4:c.*113_*121del (PROX2) MANE Select	ENSP00000451223.2:n.*113_*121del
ENST00000673765.1:c.*113_*121del (PROX2)	ENSP00000501015.1:n.*113_*121del
ENST00000553381.1:n.238-206_238-198del (YLPM1)
ENST00000554107.2:c.206-206_206-198del (YLPM1)
ENST00000556084.6:c.1211_1219del (PROX2)	ENSP00000451463.2:n.1211_1219del
ENST00000556489.3:c.1892_1900del (PROX2)	ENSP00000451223.2:n.1892_1900del
NM_001080408.2:c.1211_1219del (PROX2)	NP_001073877.2:n.1211_1219del
NM_001243007.1:c.1892_1900del (PROX2)	NP_001229936.1:n.1892_1900del
XM_005267543.2:c.*113_*121del (PROX2)	XP_005267600.1:n.*113_*121del
NM_001080408.3:c.*113_*121del (PROX2)	NP_001073877.2:n.*113_*121del
NM_001243007.2:c.*113_*121del (PROX2) MANE Select	NP_001229936.1:n.*113_*121del
NM_001384314.1:c.*113_*121del (PROX2)	NP_001371243.1:n.*113_*121del
NR_169190.1:n.2517_2525del (PROX2)