Canonical Allele Identifier: CA2611362295

Gene: UROS

Linked Data

• gnomAD v4: 10-125789086-CGTCAGCCAGCTTTGCGGTTGGACGTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125789087_125789113del , CM000672.2:g.125789087_125789113del	GRCh38
NC_000010.10:g.127477656_127477682del , CM000672.1:g.127477656_127477682del	GRCh37
NC_000010.9:g.127467646_127467672del	NCBI36
NG_011557.1:g.39156_39182del
NG_011557.2:g.39156_39182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.661-108_661-82del	ENSP00000518871.1:n.661-108_661-82del
ENST00000368797.10:c.661-108_661-82del MANE Select	ENSP00000357787.4:n.661-108_661-82del
ENST00000465577.6:c.681-108_681-82del
ENST00000648427.1:c.*659-108_*659-82del	ENSP00000497909.1:n.*659-108_*659-82del
ENST00000649536.1:c.661-108_661-82del	ENSP00000497817.1:n.661-108_661-82del
ENST00000650185.1:c.811-108_811-82del
ENST00000650472.1:n.3047-108_3047-82del
ENST00000650524.1:c.574-108_574-82del	ENSP00000498108.1:n.574-108_574-82del
ENST00000650587.1:c.742-108_742-82del	ENSP00000497366.1:n.742-108_742-82del
ENST00000368786.5:c.661-108_661-82del	ENSP00000357775.1:n.661-108_661-82del
ENST00000368797.8:c.661-108_661-82del	ENSP00000357787.4:n.661-108_661-82del
ENST00000464267.1:n.758-108_758-82del
ENST00000465577.5:n.303-108_303-82del
ENST00000470483.1:n.349-108_349-82del
ENST00000484541.5:n.434-108_434-82del
ENST00000616800.4:c.161-3853_161-3827del
ENST00000622016.4:c.241-3274_241-3248del	ENSP00000483041.1:n.241-3274_241-3248del
NM_000375.2:c.661-108_661-82del	NP_000366.1:n.661-108_661-82del
XM_005270137.2:c.742-108_742-82del	XP_005270194.1:n.742-108_742-82del
XM_005270138.2:c.661-108_661-82del	XP_005270195.1:n.661-108_661-82del
XM_005270139.2:c.661-3274_661-3248del	XP_005270196.1:n.661-3274_661-3248del
XM_006717960.2:c.742-108_742-82del	XP_006718023.1:n.742-108_742-82del
XM_011540127.1:c.661-3853_661-3827del	XP_011538429.1:n.661-3853_661-3827del
XR_246103.2:n.841-108_841-82del
XR_945810.1:n.1071-108_1071-82del
NM_000375.3:c.661-108_661-82del MANE Select	NP_000366.1:n.661-108_661-82del
NM_001324036.1:c.742-108_742-82del	NP_001310965.1:n.742-108_742-82del
NM_001324037.1:c.661-108_661-82del	NP_001310966.1:n.661-108_661-82del
NM_001324038.1:c.580-108_580-82del	NP_001310967.1:n.580-108_580-82del
NR_136675.1:n.746-108_746-82del
NR_136676.1:n.1173-108_1173-82del
NR_136677.1:n.927-3274_927-3248del
NR_136678.1:n.657-108_657-82del
XM_011540127.2:c.661-3853_661-3827del	XP_011538429.1:n.661-3853_661-3827del
XM_017016611.2:c.742-108_742-82del	XP_016872100.2:n.742-108_742-82del
XM_017016612.2:c.661-3274_661-3248del	XP_016872101.1:n.661-3274_661-3248del
XM_024448154.1:c.661-108_661-82del	XP_024303922.1:n.661-108_661-82del
XR_002957010.1:n.2000-108_2000-82del
XR_246103.3:n.856-108_856-82del
XR_945810.2:n.1086-108_1086-82del
NM_001324036.2:c.742-108_742-82del	NP_001310965.1:n.742-108_742-82del
NM_001324037.2:c.661-108_661-82del	NP_001310966.1:n.661-108_661-82del
NM_001324038.2:c.580-108_580-82del	NP_001310967.1:n.580-108_580-82del
NR_136675.2:n.736-108_736-82del
NR_136676.2:n.1163-108_1163-82del
NR_136678.2:n.647-108_647-82del
NR_136677.2:n.917-3274_917-3248del