Canonical Allele Identifier: CA1127940013

Gene: ELP1

Linked Data

• dbSNP Id: rs34189987
• gnomAD v3: 9-108917467-C-CAAAA
• gnomAD v4: 9-108917467-C-CAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917482_108917485dup , CM000671.2:g.108917482_108917485dup	GRCh38
NC_000009.11:g.111679762_111679765dup , CM000671.1:g.111679762_111679765dup	GRCh37
NC_000009.10:g.110719583_110719586dup	NCBI36
NG_008788.1:g.21858_21861dup , LRG_251:g.21858_21861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.864+76_864+79dup MANE Select	ENSP00000363779.5:n.864+76_864+79dup
ENST00000495759.6:c.552+5371_552+5374dup	ENSP00000433514.2:n.552+5371_552+5374dup
ENST00000674535.1:c.864+76_864+79dup	ENSP00000502142.1:n.864+76_864+79dup
ENST00000674704.1:n.2671+76_2671+79dup
ENST00000674836.1:n.1169+76_1169+79dup
ENST00000674890.1:c.864+76_864+79dup	ENSP00000501870.1:n.864+76_864+79dup
ENST00000674938.1:c.522+76_522+79dup	ENSP00000502427.1:n.522+76_522+79dup
ENST00000674948.1:c.522+76_522+79dup	ENSP00000501602.1:n.522+76_522+79dup
ENST00000675052.1:c.864+76_864+79dup	ENSP00000502664.1:n.864+76_864+79dup
ENST00000675078.1:c.864+76_864+79dup	ENSP00000501549.1:n.864+76_864+79dup
ENST00000675215.1:c.*88+76_*88+79dup	ENSP00000502558.1:n.*88+76_*88+79dup
ENST00000675233.1:n.2660+76_2660+79dup
ENST00000675321.1:c.864+76_864+79dup	ENSP00000502751.1:n.864+76_864+79dup
ENST00000675325.1:n.2660+76_2660+79dup
ENST00000675335.1:c.864+76_864+79dup	ENSP00000502182.1:n.864+76_864+79dup
ENST00000675400.1:n.2537+76_2537+79dup
ENST00000675406.1:c.864+76_864+79dup	ENSP00000501893.1:n.864+76_864+79dup
ENST00000675458.1:c.957+76_957+79dup	ENSP00000501754.1:n.957+76_957+79dup
ENST00000675507.1:n.2660+76_2660+79dup
ENST00000675535.1:c.864+76_864+79dup	ENSP00000501667.1:n.864+76_864+79dup
ENST00000675566.1:n.2660+76_2660+79dup
ENST00000675602.1:n.2739_2742dup
ENST00000675647.1:n.1169+76_1169+79dup
ENST00000675711.1:c.864+76_864+79dup	ENSP00000502485.1:n.864+76_864+79dup
ENST00000675727.1:c.864+76_864+79dup	ENSP00000501722.1:n.864+76_864+79dup
ENST00000675748.1:n.2498+76_2498+79dup
ENST00000675765.1:c.864+76_864+79dup	ENSP00000502640.1:n.864+76_864+79dup
ENST00000675825.1:c.864+76_864+79dup	ENSP00000502632.1:n.864+76_864+79dup
ENST00000675877.1:n.1169+76_1169+79dup
ENST00000675893.1:c.*1933+76_*1933+79dup	ENSP00000502001.1:n.*1933+76_*1933+79dup
ENST00000675943.1:n.2660+76_2660+79dup
ENST00000675979.1:c.*107+76_*107+79dup	ENSP00000502208.1:n.*107+76_*107+79dup
ENST00000676044.1:c.864+76_864+79dup	ENSP00000502378.1:n.864+76_864+79dup
ENST00000676086.1:n.2660+76_2660+79dup
ENST00000676121.1:n.2692+76_2692+79dup
ENST00000676237.1:c.765+76_765+79dup	ENSP00000501828.1:n.765+76_765+79dup
ENST00000676416.1:c.522+76_522+79dup	ENSP00000501660.1:n.522+76_522+79dup
ENST00000676424.1:n.2660+76_2660+79dup
ENST00000676429.1:n.5333+76_5333+79dup
ENST00000374647.9:c.864+76_864+79dup	ENSP00000363779.5:n.864+76_864+79dup
ENST00000537196.1:c.-184+76_-184+79dup	ENSP00000439367.1:n.-184+76_-184+79dup
NM_003640.3:c.864+76_864+79dup , LRG_251t1:c.864+76_864+79dup	NP_003631.2:n.864+76_864+79dup
XM_005252285.2:c.522+76_522+79dup	XP_005252342.1:n.522+76_522+79dup
XM_011519136.1:c.864+76_864+79dup	XP_011517438.1:n.864+76_864+79dup
XM_011519137.1:c.522+76_522+79dup	XP_011517439.1:n.522+76_522+79dup
XR_929859.1:n.1180+76_1180+79dup
NM_001318360.1:c.522+76_522+79dup	NP_001305289.1:n.522+76_522+79dup
NM_001330749.1:c.-184+76_-184+79dup	NP_001317678.1:n.-184+76_-184+79dup
NM_003640.4:c.864+76_864+79dup	NP_003631.2:n.864+76_864+79dup
XM_011519136.2:c.864+76_864+79dup	XP_011517438.1:n.864+76_864+79dup
XR_929859.3:n.1191+76_1191+79dup
NM_003640.5:c.864+76_864+79dup MANE Select	NP_003631.2:n.864+76_864+79dup
NM_001318360.2:c.522+76_522+79dup	NP_001305289.1:n.522+76_522+79dup
NM_001330749.2:c.-184+76_-184+79dup	NP_001317678.1:n.-184+76_-184+79dup