Canonical Allele Identifier: CA615049456

Gene: PROX2 YLPM1

Linked Data

• gnomAD v2: 14-75321719-AGAG-A
• gnomAD v4: 14-74855016-AGAG-A
• MyVariant Identifiers: chr14:g.75321720_75321722del (hg19) ; chr14:g.74855017_74855019del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74855020_74855022del , CM000676.2:g.74855020_74855022del	GRCh38
NC_000014.8:g.75321723_75321725del , CM000676.1:g.75321723_75321725del	GRCh37
NC_000014.7:g.74391476_74391478del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556489.4:c.*113_*115del (PROX2) MANE Select	ENSP00000451223.2:n.*113_*115del
ENST00000673765.1:c.*113_*115del (PROX2)	ENSP00000501015.1:n.*113_*115del
ENST00000553381.1:n.238-197_238-195del (YLPM1)
ENST00000554107.2:c.206-197_206-195del (YLPM1)
ENST00000556084.6:c.1211_1213del (PROX2)	ENSP00000451463.2:n.1211_1213del
ENST00000556489.3:c.1892_1894del (PROX2)	ENSP00000451223.2:n.1892_1894del
NM_001080408.2:c.1211_1213del (PROX2)	NP_001073877.2:n.1211_1213del
NM_001243007.1:c.1892_1894del (PROX2)	NP_001229936.1:n.1892_1894del
XM_005267543.2:c.*113_*115del (PROX2)	XP_005267600.1:n.*113_*115del
NM_001080408.3:c.*113_*115del (PROX2)	NP_001073877.2:n.*113_*115del
NM_001243007.2:c.*113_*115del (PROX2) MANE Select	NP_001229936.1:n.*113_*115del
NM_001384314.1:c.*113_*115del (PROX2)	NP_001371243.1:n.*113_*115del
NR_169190.1:n.2517_2519del (PROX2)