Canonical Allele Identifier: CA577263350

Gene: CADPS2

Linked Data

• gnomAD v2: 7-122047867-TAAAC-T
• gnomAD v4: 7-122407813-TAAAC-T
• MyVariant Identifiers: chr7:g.122047868_122047871del (hg19) ; chr7:g.122407814_122407817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.122407817_122407820del , CM000669.2:g.122407817_122407820del	GRCh38
NC_000007.13:g.122047871_122047874del , CM000669.1:g.122047871_122047874del	GRCh37
NC_000007.12:g.121835107_121835110del	NCBI36
NG_016215.1:g.483943_483946del
NG_016215.2:g.483943_483946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449022.7:c.2590-121_2590-118del MANE Select	ENSP00000398481.2:n.2590-121_2590-118del
ENST00000313070.11:c.2284-121_2284-118del	ENSP00000325581.8:n.2284-121_2284-118del
ENST00000334010.11:c.2584-121_2584-118del	ENSP00000333940.7:n.2584-121_2584-118del
ENST00000397721.4:c.1517-121_1517-118del
ENST00000412584.6:c.2572-121_2572-118del	ENSP00000400401.2:n.2572-121_2572-118del
ENST00000449022.6:c.2590-121_2590-118del	ENSP00000398481.2:n.2590-121_2590-118del
ENST00000462699.5:c.171-121_171-118del
ENST00000615869.4:c.2605-121_2605-118del	ENSP00000484355.1:n.2605-121_2605-118del
NM_001009571.3:c.2572-121_2572-118del	NP_001009571.2:n.2572-121_2572-118del
NM_001167940.1:c.2602-121_2602-118del	NP_001161412.1:n.2602-121_2602-118del
NM_017954.10:c.2590-121_2590-118del	NP_060424.9:n.2590-121_2590-118del
XM_005250695.3:c.2611-121_2611-118del	XP_005250752.1:n.2611-121_2611-118del
XM_005250696.3:c.2602-121_2602-118del	XP_005250753.1:n.2602-121_2602-118del
XM_005250697.3:c.2602-121_2602-118del	XP_005250754.1:n.2602-121_2602-118del
XM_005250698.3:c.2611-121_2611-118del	XP_005250755.1:n.2611-121_2611-118del
XM_005250699.3:c.2590-121_2590-118del	XP_005250756.1:n.2590-121_2590-118del
XM_005250700.3:c.2602-121_2602-118del	XP_005250757.1:n.2602-121_2602-118del
XM_005250701.3:c.2581-121_2581-118del	XP_005250758.1:n.2581-121_2581-118del
XM_005250702.3:c.2581-121_2581-118del	XP_005250759.1:n.2581-121_2581-118del
XM_005250703.3:c.2611-121_2611-118del	XP_005250760.1:n.2611-121_2611-118del
XM_005250704.3:c.2602-121_2602-118del	XP_005250761.1:n.2602-121_2602-118del
XM_005250705.3:c.2602-121_2602-118del	XP_005250762.1:n.2602-121_2602-118del
XM_005250706.3:c.2602-121_2602-118del	XP_005250763.1:n.2602-121_2602-118del
XM_005250707.3:c.2581-121_2581-118del	XP_005250764.1:n.2581-121_2581-118del
XM_005250708.2:c.2572-121_2572-118del	XP_005250765.1:n.2572-121_2572-118del
XM_011516695.1:c.2611-121_2611-118del	XP_011514997.1:n.2611-121_2611-118del
XM_011516696.1:c.2590-121_2590-118del	XP_011514998.1:n.2590-121_2590-118del
XM_011516697.1:c.2581-121_2581-118del	XP_011514999.1:n.2581-121_2581-118del
NM_001363389.1:c.2611-121_2611-118del	NP_001350318.1:n.2611-121_2611-118del
NM_001363390.1:c.2611-121_2611-118del	NP_001350319.1:n.2611-121_2611-118del
NM_001363391.1:c.2602-121_2602-118del	NP_001350320.1:n.2602-121_2602-118del
NM_001363392.1:c.2611-121_2611-118del	NP_001350321.1:n.2611-121_2611-118del
NM_001363393.1:c.2611-121_2611-118del	NP_001350322.1:n.2611-121_2611-118del
NM_001363394.1:c.2602-121_2602-118del	NP_001350323.1:n.2602-121_2602-118del
NM_001363395.1:c.2593-121_2593-118del	NP_001350324.1:n.2593-121_2593-118del
NM_001363396.1:c.2590-121_2590-118del	NP_001350325.1:n.2590-121_2590-118del
NM_001363397.1:c.2581-121_2581-118del	NP_001350326.1:n.2581-121_2581-118del
NM_001363398.1:c.2572-121_2572-118del	NP_001350327.1:n.2572-121_2572-118del
NM_001363399.1:c.2128-121_2128-118del	NP_001350328.1:n.2128-121_2128-118del
NM_001363400.1:c.2128-121_2128-118del	NP_001350329.1:n.2128-121_2128-118del
XM_005250696.5:c.2602-121_2602-118del	XP_005250753.1:n.2602-121_2602-118del
XM_005250697.5:c.2602-121_2602-118del	XP_005250754.1:n.2602-121_2602-118del
XM_005250699.5:c.2590-121_2590-118del	XP_005250756.1:n.2590-121_2590-118del
XM_005250701.5:c.2581-121_2581-118del	XP_005250758.1:n.2581-121_2581-118del
XM_005250702.5:c.2581-121_2581-118del	XP_005250759.1:n.2581-121_2581-118del
XM_005250704.5:c.2602-121_2602-118del	XP_005250761.1:n.2602-121_2602-118del
XM_005250706.5:c.2602-121_2602-118del	XP_005250763.1:n.2602-121_2602-118del
XM_005250707.5:c.2581-121_2581-118del	XP_005250764.1:n.2581-121_2581-118del
XM_017012794.2:c.2572-121_2572-118del	XP_016868283.1:n.2572-121_2572-118del
XM_017012796.2:c.2128-121_2128-118del	XP_016868285.1:n.2128-121_2128-118del
XM_017012798.2:c.2107-121_2107-118del	XP_016868287.1:n.2107-121_2107-118del
XM_024446998.1:c.1498-121_1498-118del	XP_024302766.1:n.1498-121_1498-118del
NM_017954.11:c.2590-121_2590-118del MANE Select	NP_060424.9:n.2590-121_2590-118del
NM_001009571.4:c.2572-121_2572-118del	NP_001009571.2:n.2572-121_2572-118del
NM_001167940.2:c.2602-121_2602-118del	NP_001161412.1:n.2602-121_2602-118del
NM_001363389.2:c.2611-121_2611-118del	NP_001350318.1:n.2611-121_2611-118del
NM_001363390.2:c.2611-121_2611-118del	NP_001350319.1:n.2611-121_2611-118del
NM_001363391.2:c.2602-121_2602-118del	NP_001350320.1:n.2602-121_2602-118del
NM_001363392.2:c.2611-121_2611-118del	NP_001350321.1:n.2611-121_2611-118del
NM_001363393.2:c.2611-121_2611-118del	NP_001350322.1:n.2611-121_2611-118del
NM_001363394.2:c.2602-121_2602-118del	NP_001350323.1:n.2602-121_2602-118del
NM_001363395.2:c.2593-121_2593-118del	NP_001350324.1:n.2593-121_2593-118del
NM_001363396.2:c.2590-121_2590-118del	NP_001350325.1:n.2590-121_2590-118del
NM_001363397.2:c.2581-121_2581-118del	NP_001350326.1:n.2581-121_2581-118del
NM_001363398.2:c.2572-121_2572-118del	NP_001350327.1:n.2572-121_2572-118del
NM_001363399.2:c.2128-121_2128-118del	NP_001350328.1:n.2128-121_2128-118del
NM_001363400.2:c.2128-121_2128-118del	NP_001350329.1:n.2128-121_2128-118del