Canonical Allele Identifier: CA7721111

Gene: HAPLN3

Linked Data

• dbSNP Id: rs766805402
• ExAC: 15:89424813 TCCA / T
• gnomAD v2: 15-89424813-TCCA-T
• gnomAD v4: 15-88881582-TCCA-T
• MyVariant Identifiers: chr15:g.89424814_89424816del (hg19) ; chr15:g.88881583_88881585del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881586_88881588del , CM000677.2:g.88881586_88881588del	GRCh38
NC_000015.9:g.89424817_89424819del , CM000677.1:g.89424817_89424819del	GRCh37
NC_000015.8:g.87225821_87225823del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.265_267del MANE Select	ENSP00000352606.4:p.Trp89del
ENST00000359595.7:c.265_267del	ENSP00000352606.3:p.Trp89del
ENST00000558770.5:c.265_267del	ENSP00000456458.1:p.Trp89del
ENST00000562281.1:c.265_267del	ENSP00000456985.1:p.Trp89del
ENST00000562889.5:c.451_453del	ENSP00000457180.1:p.Trp151del
ENST00000563808.1:n.367_369del
NM_001307952.1:c.451_453del	NP_001294881.1:p.Trp151del
NM_178232.2:c.265_267del	NP_839946.1:p.Trp89del
NM_178232.3:c.265_267del	NP_839946.1:p.Trp89del
XM_011521261.1:c.397_399del	XP_011519563.1:p.Trp133del
XR_243204.1:n.480_482del
XR_931756.1:n.586_588del
XM_017021934.2:c.451_453del	XP_016877423.1:p.Trp151del
XM_017021935.2:c.-115_-113del	XP_016877424.1:n.-115_-113del
XM_017021936.2:c.-115_-113del	XP_016877425.1:n.-115_-113del
XR_001751098.2:n.598_600del
XR_931756.3:n.599_601del
NM_001307952.2:c.451_453del	NP_001294881.1:p.Trp151del
NM_178232.4:c.265_267del MANE Select	NP_839946.1:p.Trp89del