Canonical Allele Identifier: CA2631108820

Gene: NTHL1

Linked Data

• gnomAD v4: 16-2046226-GCTGCCAGTCCTGGGGCTCCCAGACTGGCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046229_2046258del , CM000678.2:g.2046229_2046258del	GRCh38
NC_000016.9:g.2096230_2096259del , CM000678.1:g.2096230_2096259del	GRCh37
NC_000016.8:g.2036231_2036260del	NCBI36
NG_005895.1:g.1924_1953del , LRG_487:g.1924_1953del
NG_008412.1:g.6611_6640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.226_255del MANE Select	ENSP00000498421.1:p.Val76_Gln85del
ENST00000651583.1:c.181_210del	ENSP00000498821.1:p.Val61_Gln70del
ENST00000219066.5:c.250_279del	ENSP00000219066.1:p.Val84_Gln93del
ENST00000561841.1:c.146_175del
ENST00000566380.5:c.189_218del
ENST00000568513.5:c.173+24_173+53del
NM_002528.5:c.250_279del	NP_002519.1:p.Val84_Gln93del
XM_011522505.1:c.250_279del	XP_011520807.1:p.Val84_Gln93del
NM_001318193.1:c.250_279del	NP_001305122.1:p.Val84_Gln93del
NM_001318194.1:c.24+24_24+53del	NP_001305123.1:n.24+24_24+53del
NM_002528.6:c.250_279del	NP_002519.1:p.Val84_Gln93del
XM_017023253.1:c.250_279del	XP_016878742.1:p.Val84_Gln93del
NM_001318193.2:c.226_255del	NP_001305122.2:p.Val76_Gln85del
NM_002528.7:c.226_255del MANE Select	NP_002519.2:p.Val76_Gln85del
NM_001318194.2:c.24+24_24+53del	NP_001305123.1:n.24+24_24+53del