Canonical Allele Identifier: CA923788934

Gene: KDM5D

Linked Data

• dbSNP Id: rs2045245170
• gnomAD v3: Y-19706964-C-CCTG
• gnomAD v4: Y-19706964-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706964_19706965insCTG , CM000686.2:g.19706964_19706965insCTG	GRCh38
NC_000024.9:g.21868850_21868851insCTG , CM000686.1:g.21868850_21868851insCTG	GRCh37
NC_000024.8:g.20328238_20328239insCTG	NCBI36
NG_032920.1:g.42975_42976insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4000-102_4000-101insCAG MANE Select	ENSP00000322408.4:n.4000-102_4000-101insCAG
ENST00000317961.8:c.4000-102_4000-101insCAG	ENSP00000322408.4:n.4000-102_4000-101insCAG
ENST00000382806.6:c.3829-102_3829-101insCAG	ENSP00000372256.2:n.3829-102_3829-101insCAG
ENST00000440077.5:c.3877-102_3877-101insCAG	ENSP00000398543.1:n.3877-102_3877-101insCAG
ENST00000469599.6:n.2598-102_2598-101insCAG
ENST00000492117.1:n.3892-102_3892-101insCAG
ENST00000541639.5:c.4093-102_4093-101insCAG	ENSP00000444293.1:n.4093-102_4093-101insCAG
NM_001146705.1:c.4093-102_4093-101insCAG	NP_001140177.1:n.4093-102_4093-101insCAG
NM_001146706.1:c.3829-102_3829-101insCAG	NP_001140178.1:n.3829-102_3829-101insCAG
NM_004653.4:c.4000-102_4000-101insCAG	NP_004644.2:n.4000-102_4000-101insCAG
XM_005262560.1:c.3865-102_3865-101insCAG	XP_005262617.1:n.3865-102_3865-101insCAG
XM_005262561.1:c.3769-102_3769-101insCAG	XP_005262618.1:n.3769-102_3769-101insCAG
XM_011531468.1:c.3922-102_3922-101insCAG	XP_011529770.1:n.3922-102_3922-101insCAG
XR_244571.2:n.4288-102_4288-101insCAG
XR_430568.2:n.4622-102_4622-101insCAG
XM_005262560.3:c.3865-102_3865-101insCAG	XP_005262617.1:n.3865-102_3865-101insCAG
XM_005262561.3:c.3769-102_3769-101insCAG	XP_005262618.1:n.3769-102_3769-101insCAG
XM_011531468.3:c.3922-102_3922-101insCAG	XP_011529770.1:n.3922-102_3922-101insCAG
XM_024452495.1:c.1990-102_1990-101insCAG	XP_024308263.1:n.1990-102_1990-101insCAG
XM_024452496.1:c.1756-102_1756-101insCAG	XP_024308264.1:n.1756-102_1756-101insCAG
XR_001756009.2:n.4738-102_4738-101insCAG
XR_001756010.2:n.4738-102_4738-101insCAG
XR_001756011.2:n.4603-102_4603-101insCAG
XR_001756012.2:n.4751-102_4751-101insCAG
XR_001756013.2:n.4069-102_4069-101insCAG
XR_002958832.1:n.4170-102_4170-101insCAG
XR_002958834.1:n.4394-102_4394-101insCAG
XR_002958835.1:n.4277-102_4277-101insCAG
XR_002958836.1:n.4960-102_4960-101insCAG
XR_002958837.1:n.4767-102_4767-101insCAG
XR_244571.4:n.4287-102_4287-101insCAG
XR_430568.4:n.4621-102_4621-101insCAG
NM_001146706.2:c.3829-102_3829-101insCAG	NP_001140178.1:n.3829-102_3829-101insCAG
NM_004653.5:c.4000-102_4000-101insCAG MANE Select	NP_004644.2:n.4000-102_4000-101insCAG
NM_001146705.2:c.4093-102_4093-101insCAG	NP_001140177.1:n.4093-102_4093-101insCAG