Canonical Allele Identifier: CA10574743

Gene: KDM5D

Linked Data

• dbSNP Id: rs749563565
• ExAC: Y:21869410 TGAG / T
• MyVariant Identifiers: chrY:g.21869411_21869413del (hg19) ; chrY:g.19707525_19707527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707528_19707530del , CM000686.2:g.19707528_19707530del	GRCh38
NC_000024.9:g.21869414_21869416del , CM000686.1:g.21869414_21869416del	GRCh37
NC_000024.8:g.20328802_20328804del	NCBI36
NG_032920.1:g.42413_42415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3619_3621del MANE Select	ENSP00000322408.4:p.Leu1207del
ENST00000317961.8:c.3619_3621del	ENSP00000322408.4:p.Leu1207del
ENST00000382806.6:c.3448_3450del	ENSP00000372256.2:p.Leu1150del
ENST00000415360.1:c.535_537del	ENSP00000389433.1:p.Leu179del
ENST00000440077.5:c.3496_3498del	ENSP00000398543.1:p.Leu1166del
ENST00000469599.6:n.2217_2219del
ENST00000492117.1:n.3511_3513del
ENST00000541639.5:c.3712_3714del	ENSP00000444293.1:p.Leu1238del
NM_001146705.1:c.3712_3714del	NP_001140177.1:p.Leu1238del
NM_001146706.1:c.3448_3450del	NP_001140178.1:p.Leu1150del
NM_004653.4:c.3619_3621del	NP_004644.2:p.Leu1207del
XM_005262560.1:c.3484_3486del	XP_005262617.1:p.Leu1162del
XM_005262561.1:c.3388_3390del	XP_005262618.1:p.Leu1130del
XM_011531468.1:c.3541_3543del	XP_011529770.1:p.Leu1181del
XR_244571.2:n.3907_3909del
XR_430568.2:n.4241_4243del
XM_005262560.3:c.3484_3486del	XP_005262617.1:p.Leu1162del
XM_005262561.3:c.3388_3390del	XP_005262618.1:p.Leu1130del
XM_011531468.3:c.3541_3543del	XP_011529770.1:p.Leu1181del
XM_024452495.1:c.1609_1611del	XP_024308263.1:p.Leu537del
XM_024452496.1:c.1375_1377del	XP_024308264.1:p.Leu459del
XR_001756009.2:n.4357_4359del
XR_001756010.2:n.4357_4359del
XR_001756011.2:n.4222_4224del
XR_001756012.2:n.4370_4372del
XR_001756013.2:n.3688_3690del
XR_002958832.1:n.3789_3791del
XR_002958834.1:n.4013_4015del
XR_002958835.1:n.3896_3898del
XR_002958836.1:n.4579_4581del
XR_002958837.1:n.4386_4388del
XR_244571.4:n.3906_3908del
XR_430568.4:n.4240_4242del
NM_001146706.2:c.3448_3450del	NP_001140178.1:p.Leu1150del
NM_004653.5:c.3619_3621del MANE Select	NP_004644.2:p.Leu1207del
NM_001146705.2:c.3712_3714del	NP_001140177.1:p.Leu1238del