Canonical Allele Identifier: CA923788972

Gene: KDM5D

Linked Data

• dbSNP Id: rs2045245464
• gnomAD v3: Y-19706969-T-TTGGA
• gnomAD v4: Y-19706969-T-TTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706969_19706970insTGGA , CM000686.2:g.19706969_19706970insTGGA	GRCh38
NC_000024.9:g.21868855_21868856insTGGA , CM000686.1:g.21868855_21868856insTGGA	GRCh37
NC_000024.8:g.20328243_20328244insTGGA	NCBI36
NG_032920.1:g.42970_42971insTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4000-107_4000-106insTCCA MANE Select	ENSP00000322408.4:n.4000-107_4000-106insTCCA
ENST00000317961.8:c.4000-107_4000-106insTCCA	ENSP00000322408.4:n.4000-107_4000-106insTCCA
ENST00000382806.6:c.3829-107_3829-106insTCCA	ENSP00000372256.2:n.3829-107_3829-106insTCCA
ENST00000440077.5:c.3877-107_3877-106insTCCA	ENSP00000398543.1:n.3877-107_3877-106insTCCA
ENST00000469599.6:n.2598-107_2598-106insTCCA
ENST00000492117.1:n.3892-107_3892-106insTCCA
ENST00000541639.5:c.4093-107_4093-106insTCCA	ENSP00000444293.1:n.4093-107_4093-106insTCCA
NM_001146705.1:c.4093-107_4093-106insTCCA	NP_001140177.1:n.4093-107_4093-106insTCCA
NM_001146706.1:c.3829-107_3829-106insTCCA	NP_001140178.1:n.3829-107_3829-106insTCCA
NM_004653.4:c.4000-107_4000-106insTCCA	NP_004644.2:n.4000-107_4000-106insTCCA
XM_005262560.1:c.3865-107_3865-106insTCCA	XP_005262617.1:n.3865-107_3865-106insTCCA
XM_005262561.1:c.3769-107_3769-106insTCCA	XP_005262618.1:n.3769-107_3769-106insTCCA
XM_011531468.1:c.3922-107_3922-106insTCCA	XP_011529770.1:n.3922-107_3922-106insTCCA
XR_244571.2:n.4288-107_4288-106insTCCA
XR_430568.2:n.4622-107_4622-106insTCCA
XM_005262560.3:c.3865-107_3865-106insTCCA	XP_005262617.1:n.3865-107_3865-106insTCCA
XM_005262561.3:c.3769-107_3769-106insTCCA	XP_005262618.1:n.3769-107_3769-106insTCCA
XM_011531468.3:c.3922-107_3922-106insTCCA	XP_011529770.1:n.3922-107_3922-106insTCCA
XM_024452495.1:c.1990-107_1990-106insTCCA	XP_024308263.1:n.1990-107_1990-106insTCCA
XM_024452496.1:c.1756-107_1756-106insTCCA	XP_024308264.1:n.1756-107_1756-106insTCCA
XR_001756009.2:n.4738-107_4738-106insTCCA
XR_001756010.2:n.4738-107_4738-106insTCCA
XR_001756011.2:n.4603-107_4603-106insTCCA
XR_001756012.2:n.4751-107_4751-106insTCCA
XR_001756013.2:n.4069-107_4069-106insTCCA
XR_002958832.1:n.4170-107_4170-106insTCCA
XR_002958834.1:n.4394-107_4394-106insTCCA
XR_002958835.1:n.4277-107_4277-106insTCCA
XR_002958836.1:n.4960-107_4960-106insTCCA
XR_002958837.1:n.4767-107_4767-106insTCCA
XR_244571.4:n.4287-107_4287-106insTCCA
XR_430568.4:n.4621-107_4621-106insTCCA
NM_001146706.2:c.3829-107_3829-106insTCCA	NP_001140178.1:n.3829-107_3829-106insTCCA
NM_004653.5:c.4000-107_4000-106insTCCA MANE Select	NP_004644.2:n.4000-107_4000-106insTCCA
NM_001146705.2:c.4093-107_4093-106insTCCA	NP_001140177.1:n.4093-107_4093-106insTCCA