Canonical Allele Identifier: CA2692401982

Gene: SARDH

Linked Data

• gnomAD v4: 9-133729645-TGAGGCTTGGGGCAGTGAGGGGACCCACAAGGGTCACACCACCTGGGTTCAAGCTGGGATTCAGAGCCAGGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729646_133729717del , CM000671.2:g.133729646_133729717del	GRCh38
NC_000009.11:g.136594768_136594839del , CM000671.1:g.136594768_136594839del	GRCh37
NC_000009.10:g.135584589_135584660del	NCBI36
NG_008987.1:g.15239_15310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439388.6:c.915+48_915+119del MANE Select	ENSP00000403084.1:n.915+48_915+119del
ENST00000298628.6:c.915+48_915+119del	ENSP00000298628.5:n.915+48_915+119del
ENST00000371867.5:c.648+48_648+119del	ENSP00000360933.1:n.648+48_648+119del
ENST00000371872.8:c.915+48_915+119del	ENSP00000360938.4:n.915+48_915+119del
ENST00000422262.6:c.75+48_75+119del	ENSP00000415537.3:n.75+48_75+119del
ENST00000427237.6:c.915+48_915+119del	ENSP00000394210.2:n.915+48_915+119del
ENST00000439388.5:c.915+48_915+119del	ENSP00000403084.1:n.915+48_915+119del
ENST00000616662.4:c.915+48_915+119del	ENSP00000484683.1:n.915+48_915+119del
NM_001134707.1:c.915+48_915+119del	NP_001128179.1:n.915+48_915+119del
NM_007101.3:c.915+48_915+119del	NP_009032.2:n.915+48_915+119del
XM_006716990.2:c.915+48_915+119del	XP_006717053.1:n.915+48_915+119del
XM_011518333.1:c.915+48_915+119del	XP_011516635.1:n.915+48_915+119del
XR_929726.1:n.1082+48_1082+119del
XR_929727.1:n.1082+48_1082+119del
XR_929728.1:n.1082+48_1082+119del
XM_017014367.1:c.915+48_915+119del	XP_016869856.1:n.915+48_915+119del
XM_017014368.1:c.915+48_915+119del	XP_016869857.1:n.915+48_915+119del
XR_001746213.1:n.1211+48_1211+119del
XR_001746214.1:n.2394+48_2394+119del
XR_001746215.1:n.1213+48_1213+119del
XR_001746216.1:n.1211+48_1211+119del
XR_001746217.1:n.1211+48_1211+119del
XR_001746218.1:n.1211+48_1211+119del
XR_929726.2:n.1082+48_1082+119del
NM_001134707.2:c.915+48_915+119del MANE Select	NP_001128179.1:n.915+48_915+119del
NM_007101.4:c.915+48_915+119del	NP_009032.2:n.915+48_915+119del