Canonical Allele Identifier: CA1528423704

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753878_13753882delinsTACCC , CM000667.2:g.13753878_13753882delinsTACCC	GRCh38
NC_000005.9:g.13753987_13753991delinsTACCC , CM000667.1:g.13753987_13753991delinsTACCC	GRCh37
NC_000005.8:g.13806987_13806991delinsTACCC	NCBI36
NG_013081.1:g.195599_195603delinsGGGTA
NG_013081.2:g.195599_195603delinsGGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10555+321_10555+325delinsGGGTA MANE Select	ENSP00000265104.4:n.10555+321_10555+325delinsGGGTA
ENST00000681290.1:c.10510+321_10510+325delinsGGGTA	ENSP00000505288.1:n.10510+321_10510+325delinsGGGTA
ENST00000265104.4:c.10555+321_10555+325delinsGGGTA	ENSP00000265104.4:n.10555+321_10555+325delinsGGGTA
NM_001369.2:c.10555+321_10555+325delinsGGGTA	NP_001360.1:n.10555+321_10555+325delinsGGGTA
XM_005248262.2:c.10510+321_10510+325delinsGGGTA	XP_005248319.1:n.10510+321_10510+325delinsGGGTA
XM_005248262.3:c.10663+321_10663+325delinsGGGTA	XP_005248319.2:n.10663+321_10663+325delinsGGGTA
XM_017009177.1:c.10663+321_10663+325delinsGGGTA	XP_016864666.1:n.10663+321_10663+325delinsGGGTA
XM_017009178.1:c.9568+321_9568+325delinsGGGTA	XP_016864667.1:n.9568+321_9568+325delinsGGGTA
XM_017009179.2:c.9568+321_9568+325delinsGGGTA	XP_016864668.1:n.9568+321_9568+325delinsGGGTA
XM_017009180.1:c.10663+321_10663+325delinsGGGTA	XP_016864669.1:n.10663+321_10663+325delinsGGGTA
XM_017009181.1:c.10663+321_10663+325delinsGGGTA	XP_016864670.1:n.10663+321_10663+325delinsGGGTA
XM_017009182.1:c.10663+321_10663+325delinsGGGTA	XP_016864671.1:n.10663+321_10663+325delinsGGGTA
XM_017009185.1:c.5752+321_5752+325delinsGGGTA	XP_016864674.1:n.5752+321_5752+325delinsGGGTA
XM_017009186.1:c.5305+321_5305+325delinsGGGTA	XP_016864675.1:n.5305+321_5305+325delinsGGGTA
XM_017009188.1:c.4642+321_4642+325delinsGGGTA	XP_016864677.1:n.4642+321_4642+325delinsGGGTA
XM_024454388.1:c.9568+321_9568+325delinsGGGTA	XP_024310156.1:n.9568+321_9568+325delinsGGGTA
XM_024454389.1:c.9157+321_9157+325delinsGGGTA	XP_024310157.1:n.9157+321_9157+325delinsGGGTA
NM_001369.3:c.10555+321_10555+325delinsGGGTA MANE Select	NP_001360.1:n.10555+321_10555+325delinsGGGTA